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Background and purpose Given the overlapping clinical manifestations and pathology, the differentiation between essential tremor (ET) and Parkinson's disease (PD) is difficult. Our aims were to examine the plasma metabolomics profiling and their association with motor and non-motor symptoms (NMS) in patients with PD, and to determine differences between de novo PD compared to moderate-advanced PD vs. controls and patients with ET. Methods Plasma samples were collected from 137 subjects including 35 age matched controls, 29 NOVO-PD, 35 PD and 38 ET patients. PD severity, motor and NMS including cognitive function were assessed using the UPDRS, NMS and PD cognitive rating scales, respectively. Metabolomics analysis was performed by UPLC-ESI-QToF-MS followed by unsupervised multivariate statistics. The area under the curve of the biomarkers according to distribution of their concentrations and the diagnosis of PD (NOVO-PD, advanced PD) vs ET and healthy controls was used as a measurement of diagnostic ability. Results Several acyl-carnitines, bilirubin, tyramine and tetrahydro-21-deoxycortisol (THS) presented good predictive accuracy (AUC higher than 0.8) for differentiating de novo PD and advanced PD from controls and ET, suggesting an alteration in the lipid oxidation pathway. In multivariate regression analysis, metabolite levels were not significantly associated with motor and NMS severity in PD. Conclusions Diverse acyl-carnitines, bilirubin, tyramine and some adrenal gland derived metabolites are suggested as potential biomarkers able to distinguish between PD from controls and ET., This work was supported by Junta de Castilla y León (BIO/BU06/14).

We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age 12 years of age at about 1-2 months/year based on age equivalent score and 1-16 growth score points/year depending on molecular subtype and domain. Children with a deletion have lower scores at baseline and slower rate of gaining skills while children with UBE3A variant subtype demonstrated higher scores as well as greater rates of skill attainment in all domains. The developmental profiles of UPD and ImpD were similar.

Study designInternational, multicenter, prospective, longitudinal observational cohort.ObjectiveTo assess how new motor deficits affect patient reported quality of life scores after adult deformity surgery.Summary of background dataAdult spinal deformity surgery is associated with high morbidity, including risk of new postoperative motor deficit. It is unclear what effect new motor deficit has on Health-related Quality of Life scores (HRQOL) scores.MethodsAdult spinal deformity patients were enrolled prospectively at 15 sites worldwide. Other inclusion criteria included major Cobb more than 80°, C7-L2 curve apex, and any patient undergoing three column osteotomy. American Spinal Injury Association (ASIA) scores and standard HRQOL scores were recorded pre-op, 6 weeks, 6 months, and 2 years.ResultsTwo hundred seventy two complex adult spinal deformity (ASD) patients enrolled. HRQOL scores were worse for patients with lower extremity motor score (LEMS). Mean HRQOL changes at 6 weeks and 2 years compared with pre-op for patients with motor worsening were: ODI (+12.4 at 6 weeks and -4.7 at 2 years), SF-36v2 physical (-4.5 at 6 weeks and +2.3 at 2 years), SRS-22r (0.0 at 6 weeks and +0.4 at 2 years). Mean HRQOL changes for motor-neutral patients were: ODI (+0.6 at 6 weeks and -12.1 at 2 years), SF-36v2 physical (-1.6 at 6 weeks and +5.9 at 2 years), and SRS-22r (+0.4 at 6 weeks and +0.7 at 2 years). For patients with LEMS improvement, mean HRQOL changes were: ODI (-0.6 at 6 weeks and -16.3 at 2 years), SF-36v2 physical (+1.0 at 6 weeks and +7.0 at 2 years), and SRS-22r (+0.5 at 6 weeks and +0.9 at 2 years).ConclusionIn the subgroup of deformity patients who developed a new motor deficit, total HRQOLs and HRQOL changes were negatively impacted. Patients with more than 2 points of LEMS worsening had the worst changes, but still showed overall HRQOL improvement at 6 months and 2 years compared with pre-op baseline.Level of Evidence: 3.

Background: Although it is recognized that the majority of children with developmental coordination disorder (DCD) have balance deficits, comprehensive insights into which balance domains are affected, are still lacking in literature.Research question: To what extent is balance control deficient in individuals with DCD compared to controls?Methods: Pubmed, Scopus and Web of Science were systematically searched. Risk of bias was assessed with the Scottish Intercollegiate Guidelines Network checklist for case-control studies. Mean and standard deviations characterizing balance control were extracted to calculate standardized mean differences (SMD) and pooled, if possible, using Review Manager.Results: The results of 31 studies (1152 individuals with DCD, 1103 typically developing (TD) peers, mean age 10.4 years old) were extracted of which 17 were used for meta-analysis. The mean SMD for the balance subscale of the Movement Assessment Battery for Children was 1.63 (pooled 95 %CI =[1.30;1.97]), indicating children with DCD to perform significantly poorer than their TD peers. Force plate studies also revealed that children with DCD present with a larger sway path during bipedal stance with eyes closed (pooled mean SMD = 0.55; 95 %CI = [0.32;0.78]). Children with DCD tend to have direction-specific limited stability limits and task-independent delayed onset of anticipatory postural adjustments.Interpretation: Children with DCD perform poorer on different domains of balance compared to TD peers. Future research should focus on comprehensive balance assessment in these children, preferably using a longitudinal design.

BackgroundResearch about pediatric patients' perspective on mucopolysaccharidosis type VI (MPS VI) and its impact on daily life is limited. We aimed to identify the disease concepts of interest that most impact function and day-to-day life of pediatric patients with MPS VI, and to consider clinical outcome assessments (COAs) that may potentially measure meaningful improvements in these concepts.MethodsPotential focus group participants were identified by the National MPS Society (USA) and invited to participate if they self-reported a clinician-provided diagnosis of MPS VI and were 4 to 18 years, receiving enzyme replacement therapy (ERT), and available to attend a 1-day focus group with their caregiver in Dallas, TX, USA. The focus group consisted of a series of polling and open-ended concept elicitation questions and a cognitive debriefing session. The discussion was audio recorded, transcribed verbatim, and analyzed to identify disease concepts of interest and functional impacts most relevant to participants.ResultsOverall, caregivers (n = 9) and patients with MPS VI (n = 9) endorsed that although their children/they receive ERT, residual symptoms exist and impact health-related quality of life. The key disease concepts of interest identified were impaired mobility, upper extremity and fine motor deficits, pain, and fatigue. Pain was unanimously reported by all patients across many areas of the body and impacted daily activity. Key disease concepts were mapped to a selection of pediatric COAs including generic measures such as PROMIS®, PODCI, CHAQ, and PedsQL™. Caregivers endorsed the relevance of PODCI and PROMIS Upper Extremity, Mobility, and Pain items and all patients completed the NIH Toolbox Pegboard Dexterity Test. Additional COAs that aligned with the disease concepts included range of motion, the 2- and 6-min walk tests, timed stair climbs, Bruininks-Oseretsky Test of Motor Proficiency, 2nd edition, grip strength, pain visual analog scale, and the F

Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by impaired communication skills, ataxia, motor and balance deficits, intellectual disabilities, and seizures. The genetic cause of AS is the neuronal loss of UBE3A expression in the brain. A novel approach, described here, is a stem cell gene therapy which uses lentivector-transduced hematopoietic stem and progenitor cells to deliver functional UBE3A to affected cells. We have demonstrated both the prevention and reversal of AS phenotypes upon transplantation and engraftment of human CD34+ cells transduced with a Ube3a lentivector in a novel immunodeficient Ube3amat-/pat+ IL2rg-/y mouse model of AS. A significant improvement in motor and cognitive behavioral assays as well as normalized delta power measured by electroencephalogram was observed in neonates and adults transplanted with the gene modified cells. Human hematopoietic profiles observed in the lymphoid organs by detection of human immune cells were normal. Expression of UBE3A was detected in the brains of the adult treatment group following immunohistochemical staining illustrating engraftment of the gene-modified cells expressing UBE3A in the brain. As demonstrated with our data, this stem cell gene therapy approach offers a promising treatment strategy for AS, not requiring a critical treatment window.

Study designInternational, multicenter, prospective, longitudinal observational cohort.ObjectiveTo assess how new motor deficits affect patient reported quality of life scores after adult deformity surgery.Summary of background dataAdult spinal deformity surgery is associated with high morbidity, including risk of new postoperative motor deficit. It is unclear what effect new motor deficit has on Health-related Quality of Life scores (HRQOL) scores.MethodsAdult spinal deformity patients were enrolled prospectively at 15 sites worldwide. Other inclusion criteria included major Cobb more than 80°, C7-L2 curve apex, and any patient undergoing three column osteotomy. American Spinal Injury Association (ASIA) scores and standard HRQOL scores were recorded pre-op, 6 weeks, 6 months, and 2 years.ResultsTwo hundred seventy two complex adult spinal deformity (ASD) patients enrolled. HRQOL scores were worse for patients with lower extremity motor score (LEMS). Mean HRQOL changes at 6 weeks and 2 years compared with pre-op for patients with motor worsening were: ODI (+12.4 at 6 weeks and -4.7 at 2 years), SF-36v2 physical (-4.5 at 6 weeks and +2.3 at 2 years), SRS-22r (0.0 at 6 weeks and +0.4 at 2 years). Mean HRQOL changes for motor-neutral patients were: ODI (+0.6 at 6 weeks and -12.1 at 2 years), SF-36v2 physical (-1.6 at 6 weeks and +5.9 at 2 years), and SRS-22r (+0.4 at 6 weeks and +0.7 at 2 years). For patients with LEMS improvement, mean HRQOL changes were: ODI (-0.6 at 6 weeks and -16.3 at 2 years), SF-36v2 physical (+1.0 at 6 weeks and +7.0 at 2 years), and SRS-22r (+0.5 at 6 weeks and +0.9 at 2 years).ConclusionIn the subgroup of deformity patients who developed a new motor deficit, total HRQOLs and HRQOL changes were negatively impacted. Patients with more than 2 points of LEMS worsening had the worst changes, but still showed overall HRQOL improvement at 6 months and 2 years compared with pre-op baseline.Level of Evidence: 3.

Pediatric burn injuries can alter the trajectory of the survivor's entire life. Patient-centered outcome measures are helpful to assess unique physical and psychosocial needs and long-term recovery. This study aimed to develop a conceptual framework to measure pediatric burn outcomes in survivors aged 5 to 12 years as a part of the School-Aged Life Impact Burn Recovery Evaluation Computer Adaptive Test (SA-LIBRE5-12 CAT) development. This study conducted a systematic literature review guided by the WHO International Classification of Functioning-Child and Youth and domains in the American Burn Association/Shriners Hospitals for Children Burn Outcomes Questionnaire5-18. Interviews with eight parents and seven clinicians were conducted to identify important domains in child recovery. One clinician focus group with four clinicians was completed to identify gaps in the preliminary framework, and semiweekly expert consensus meetings were conducted with three experts to solidify the framework. Qualitative data were analyzed by grounded theory methodology. Three major thematic outcome domains emerged: 1) Physical Functioning: fine motor and upper extremity, gross motor and lower extremity, pain, skin symptoms, sleep and fatigue, and physical resilience; 2) Psychological Functioning: cognitive, behavioral, emotional, resilience, and body image; and 3) Family and Social Functioning: family relationships, and parental satisfaction, school, peer relations, and community participation. The framework will be used to develop item banks for a CAT-based assessment of school-aged children's health and developmental outcomes, which will be designed for clinical and research use to optimize interventions, personalize care, and improve long-term health outcomes for burned children.

Background: Although it is recognized that the majority of children with developmental coordination disorder (DCD) have balance deficits, comprehensive insights into which balance domains are affected, are still lacking in literature.Research question: To what extent is balance control deficient in individuals with DCD compared to controls?Methods: Pubmed, Scopus and Web of Science were systematically searched. Risk of bias was assessed with the Scottish Intercollegiate Guidelines Network checklist for case-control studies. Mean and standard deviations characterizing balance control were extracted to calculate standardized mean differences (SMD) and pooled, if possible, using Review Manager.Results: The results of 31 studies (1152 individuals with DCD, 1103 typically developing (TD) peers, mean age 10.4 years old) were extracted of which 17 were used for meta-analysis. The mean SMD for the balance subscale of the Movement Assessment Battery for Children was 1.63 (pooled 95 %CI =[1.30;1.97]), indicating children with DCD to perform significantly poorer than their TD peers. Force plate studies also revealed that children with DCD present with a larger sway path during bipedal stance with eyes closed (pooled mean SMD = 0.55; 95 %CI = [0.32;0.78]). Children with DCD tend to have direction-specific limited stability limits and task-independent delayed onset of anticipatory postural adjustments.Interpretation: Children with DCD perform poorer on different domains of balance compared to TD peers. Future research should focus on comprehensive balance assessment in these children, preferably using a longitudinal design.

[Background and purpose]: Given the overlapping clinical manifestations and pathology, the differentiation between essential tremor (ET) and Parkinson's disease (PD) is difficult. Our aims were to examine the plasma metabolomics profiling and their association with motor and non-motor symptoms (NMS) in patients with PD, and to determine differences between de novo PD compared to moderate-advanced PD vs. controls and patients with ET., [Methods]: Plasma samples were collected from 137 subjects including 35 age matched controls, 29 NOVO-PD, 35 PD and 38 ET patients. PD severity, motor and NMS including cognitive function were assessed using the UPDRS, NMS and PD cognitive rating scales, respectively. Metabolomics analysis was performed by UPLC-ESI-QToF-MS followed by unsupervised multivariate statistics. The area under the curve of the biomarkers according to distribution of their concentrations and the diagnosis of PD (NOVO-PD, advanced PD) vs ET and healthy controls was used as a measurement of diagnostic ability., [Results]: Several acyl-carnitines, bilirubin, tyramine and tetrahydro-21-deoxycortisol (THS) presented good predictive accuracy (AUC higher than 0.8) for differentiating de novo PD and advanced PD from controls and ET, suggesting an alteration in the lipid oxidation pathway. In multivariate regression analysis, metabolite levels were not significantly associated with motor and NMS severity in PD., [Conclusions]: Diverse acyl-carnitines, bilirubin, tyramine and some adrenal gland derived metabolites are suggested as potential biomarkers able to distinguish between PD from controls and ET.

BACKGROUND: Some research suggests that children with autism spectrum disorder (ASD) experience diverse motor difficulties that appear closely related to the severity of symptomatology, including repetitive behaviors. Therefore, motor assessment in ASD has crucial relevance in order to plan a specific intervention. The aim of this study is to assess and describe the motor functioning in school-aged children with ASDand to evaluate the relationship between their motor profile and clinical features. METHODS: The Movement Assessment Battery for Children - second edition (M-ABC2) Checklist was administered to twenty children with ASD, aged between 5 and 13.5 years. The motor profile of the sample was analyzed and then the relationship between the motor functioning and the clinical characteristics of subjects (age, treatment duration, intellectual functioning and repetitive behaviors) was investigated. RESULTS: Seventy percent of our sample has motor difficulties, especially in aiming and catching skills, balance and manual dexterity. Poorer performance was related to a higher frequency and intensity of repetitive and stereotyped behaviors. CONCLUSIONS: Motor difficulties in children with ASD affect specific skills that imply the ability to integrate the perception with the action for anticipating and controlling the movement in a well-coordinated way. This result, along with the finding of an increased severity of repetitive and stereotyped behaviors in these children, emphasizes the close link between motor and "core" symptoms in ASD.

The fragile X premutation is a CGG trinucleotide repeat expansion between 55 and 200 repeats in the 5'-untranslated region of the fragile X mental retardation 1 (FMR1) gene. Human carriers of the premutation allele are at risk of developing the late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). Characteristic neuropathology associated with FXTAS includes intranuclear inclusions in neurons and astroglia. Previous studies recapitulated these histopathological features in neurons in a knock-in mouse model, but without significant astroglial pathology. To determine the role of astroglia in FXTAS, we generated a transgenic mouse line (Gfa2-CGG99-eGFP) that selectively expresses a 99-CGG repeat expansion linked to an enhanced green fluorescent protein (eGFP) reporter in astroglia throughout the brain, including cerebellar Bergmann glia. Behaviorally these mice displayed impaired motor performance on the ladder-rung test, but paradoxically better performance on the rotarod. Immunocytochemical analysis revealed that CGG99-eGFP co-localized with GFAP and S-100ß, but not with NeuN, Iba1, or MBP, indicating that CGG99-eGFP expression is specific to astroglia. Ubiquitin-positive intranuclear inclusions were found in eGFP-expressing glia throughout the brain. In addition, intracytoplasmic ubiquitin-positive inclusions were found outside the nucleus in distal astrocyte processes. Intriguingly, intranuclear inclusions, in the absence of eGFP mRNA and eGFP fluorescence, were present in neurons of the hypothalamus and neocortex. Furthermore, intranuclear inclusions in both neurons and astrocytes displayed immunofluorescent labeling for the polyglycine peptide FMRpolyG, implicating FMRpolyG in the pathology found in Gfa2-CGG99 mice. Considered together, these results show that Gfa2-CGG99 expression in mice is sufficient to induce key features of FXTAS pathology, including formation of intranuclear inclusions, translation of FMRpolyG, and defic

The fragile X premutation is a CGG trinucleotide repeat expansion between 55 and 200 repeats in the 5'-untranslated region of the fragile X mental retardation 1 (FMR1) gene. Human carriers of the premutation allele are at risk of developing the late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). Characteristic neuropathology associated with FXTAS includes intranuclear inclusions in neurons and astroglia. Previous studies recapitulated these histopathological features in neurons in a knock-in mouse model, but without significant astroglial pathology. To determine the role of astroglia in FXTAS, we generated a transgenic mouse line (Gfa2-CGG99-eGFP) that selectively expresses a 99-CGG repeat expansion linked to an enhanced green fluorescent protein (eGFP) reporter in astroglia throughout the brain, including cerebellar Bergmann glia. Behaviorally these mice displayed impaired motor performance on the ladder-rung test, but paradoxically better performance on the rotarod. Immunocytochemical analysis revealed that CGG99-eGFP co-localized with GFAP and S-100ß, but not with NeuN, Iba1, or MBP, indicating that CGG99-eGFP expression is specific to astroglia. Ubiquitin-positive intranuclear inclusions were found in eGFP-expressing glia throughout the brain. In addition, intracytoplasmic ubiquitin-positive inclusions were found outside the nucleus in distal astrocyte processes. Intriguingly, intranuclear inclusions, in the absence of eGFP mRNA and eGFP fluorescence, were present in neurons of the hypothalamus and neocortex. Furthermore, intranuclear inclusions in both neurons and astrocytes displayed immunofluorescent labeling for the polyglycine peptide FMRpolyG, implicating FMRpolyG in the pathology found in Gfa2-CGG99 mice. Considered together, these results show that Gfa2-CGG99 expression in mice is sufficient to induce key features of FXTAS pathology, including formation of intranuclear inclusions, translation of FMRpolyG, and defic

The motor system in its manifold articulations is receiving increasing clinical and research attention. This is because motor impairments constitute a central, expressive component of the mental state examination and a key transdiagnostic feature indexing disease severity. Furthermore, within the schizophrenia spectrum, the integration of neurophysiological, developmental, and phenomenological perspectives suggests that motor impairment is not simply a generic, extrinsic proxy of an altered neurodevelopment, but might be more intimately related to psychotic risk. Therefore, an increased understanding, conceptualization, and knowledge of such motor system and its anomalies could empower contemporary risk prediction and diagnostic procedures.

BACKGROUND: Fetal alcohol spectrum disorders (FASD) are a global health concern. To further understand FASD in adulthood is a major public health interest. OBJECTIVE: To describe the clinical characteristics of young adults with FASD adopted from orphanages to a socially more favourable and stable rearing environment as children. DESIGN: Prospective observational cohort study SETTING: Western Sweden PARTICIPANTS: A population-based cohort of 37 adoptees diagnosed with FASD in childhood. OUTCOME MEASURES: Assessment consisted of clinical evaluations of social, medical, psychiatric, neuropsychological, adaptive and ophthalmological status by a physician, ophthalmologist, orthoptist and psychologist. RESULTS: Out of 37 adoptees with FASD, 36 (15 females) were evaluated at a median age of 22 years (range 18-28) and a mean follow-up time of 15.5 years (range 13-17). Twenty (56%) were dependent on social support. Sexual victimisation was reported by nine (26%). In 21 individuals with fetal alcohol syndrome, growth restriction in height and head circumference of approximately -1.8 SD persisted into adulthood. Of 32 examined, 22 (69%) had gross motor coordination abnormalities. High blood pressure was measured in nine (28%). Ophthalmological abnormalities were found in 29 of 30 (97%). A median IQ of 86 in childhood had declined significantly to 71 by adulthood (mean difference: 15.5; 95% CI 9.5-21.4). Psychiatric disorders were diagnosed in 88%, most commonly attention deficit hyperactivity disorder (70%). Three or more disorders were diagnosed in 48%, and 21% had attempted suicide. The median Clinical Global Impression-Severity score was 6 = 'severely ill'. CONCLUSION: Major cognitive impairments, psychiatric morbidity, facial dysmorphology, growth restriction and ophthalmological abnormalities accompanies FASD in adulthood. Recognition of FASD in childhood warrants habilitation across the lifespan.

Увод: Процена минималних неуролошких дисфункција (МНД) пружа информације о неуролошком стању детета, помаже у идентификовању вулнерабилности детета ка развоју моторних слабости, тешкоћа у учењу или поремећаја понашања. Деформитети кичменог стуба код деце предшколског узраста су у сталном порасту. Циљ истраживања: Утврђивање преваленце МНД-а у узорку предшколске деце тестирањем по Touwen-у, евалуација постуралног статуса код деце предшколског узраста, као и утврђивање повезаности јављања минималних неуролошких дисфункција и постуралних поремећаја код деце предшколског узраста. Материјал и методе: Истраживање је урађено у предшколској установи „Радосно детињство“ из Новог Сада. Укупан узорак је обухватио 120-оро деце која су подељена у две групе у односу на узраст, 60-оро деце старости од 6 до 7 година (група А) и 60-оро деце старости од 5 до 6 година (група Б). Методом случајног избора су изабрана три вртића из различитих делова града, а деца су насумично одабрана са приближно једнаком заступљеношћу пола. Тестирање је урађено са Touwen-овим тестом модификованим од стране Hadders-Algre. Резултати су груписани у три групе: одсуство, присуство једноставних (присуство једне или две области дисфункције) и присуство комплексних МНД (присуство најмање три области дисфункције). Код све деце урађена је евалуација постуралног статуса, као и антропометријска мерења. Резултати: Постоји статистички значајна разлика у учесталости јављања МНД-а у односу на узраст, одступања су чешће присутна у млађем узрасту. МНД се чешће јављају код дечака у односу на девојчице, али није показана статистички значајна разлика. Код 68,3% деце уочени су елементи лошег држања тела. Најчешћа одступања од нормалног постуралног положаја била су у виду спуштених стопала (45,8%), асиметрије висине рамена (35%), искривљења ахилових тетива ван (30%), повећања слабинске кривине (29,2%) и асиметрије троуглова стаса (20%). Утврђена је статистички значајна позитивна повезаност између јављања минималних неуролошк, Uvod: Procena minimalnih neuroloških disfunkcija (MND) pruža informacije o neurološkom stanju deteta, pomaže u identifikovanju vulnerabilnosti deteta ka razvoju motornih slabosti, teškoća u učenju ili poremećaja ponašanja. Deformiteti kičmenog stuba kod dece predškolskog uzrasta su u stalnom porastu. Cilj istraživanja: Utvrđivanje prevalence MND-a u uzorku predškolske dece testiranjem po Touwen-u, evaluacija posturalnog statusa kod dece predškolskog uzrasta, kao i utvrđivanje povezanosti javljanja minimalnih neuroloških disfunkcija i posturalnih poremećaja kod dece predškolskog uzrasta. Materijal i metode: Istraživanje je urađeno u predškolskoj ustanovi „Radosno detinjstvo“ iz Novog Sada. Ukupan uzorak je obuhvatio 120-oro dece koja su podeljena u dve grupe u odnosu na uzrast, 60-oro dece starosti od 6 do 7 godina (grupa A) i 60-oro dece starosti od 5 do 6 godina (grupa B). Metodom slučajnog izbora su izabrana tri vrtića iz različitih delova grada, a deca su nasumično odabrana sa približno jednakom zastupljenošću pola. Testiranje je urađeno sa Touwen-ovim testom modifikovanim od strane Hadders-Algre. Rezultati su grupisani u tri grupe: odsustvo, prisustvo jednostavnih (prisustvo jedne ili dve oblasti disfunkcije) i prisustvo kompleksnih MND (prisustvo najmanje tri oblasti disfunkcije). Kod sve dece urađena je evaluacija posturalnog statusa, kao i antropometrijska merenja. Rezultati: Postoji statistički značajna razlika u učestalosti javljanja MND-a u odnosu na uzrast, odstupanja su češće prisutna u mlađem uzrastu. MND se češće javljaju kod dečaka u odnosu na devojčice, ali nije pokazana statistički značajna razlika. Kod 68,3% dece uočeni su elementi lošeg držanja tela. Najčešća odstupanja od normalnog posturalnog položaja bila su u vidu spuštenih stopala (45,8%), asimetrije visine ramena (35%), iskrivljenja ahilovih tetiva van (30%), povećanja slabinske krivine (29,2%) i asimetrije trouglova stasa (20%). Utvrđena je statistički značajna pozitivna povezanost između j, Introduction: Assessment of minor neurological dysfunction (MND) provides information about a child's neurological condition, which helps to identify the vulnerability of the child to the development of motor impairment, difficulties in learning or behavioral disorders. Spinal deformities in preschool children are constantly increasing. Aim: Determining the prevalence of MND in a sample of preschool children using Touwen’s test, the evaluation of postural status in preschool children, as well as determining the relation between the occurrence of minor neurological dysfunction and postural disorders in preschool children. Material and methods: The examination was carried out in the preschool institution “Radosno detinjstvo” in the city of Novi Sad. The total sample included 120 children who were divided into two groups according to their age, 60 children aged 6 to 7 years (group A) and 60 children aged 5 to 6 years (group B). The children were recruited at three randomly selected kindergartens, and the children were randomly selected with approximately equal gender representation. The testing was done with Touwen's test modified by Hadders-Algra. The results were classified into three groups: the absence of MND, the presence of simple MND (presence of one or two domains of dysfunction) and the presence of complex MND (presence of at least three domains of dysfunction). Evaluation of postural status and anthropometric measurements were carried out for all the children. Results: There is a statistically significant difference in the prevalence of MND in relation to age, variations were more likely at a younger age. MND is more frequent in boys than in girls, but this difference is not statistically significant. In 68.3% of the children there are elements of bad posture. The most common deviations from the normal postural position are flat feet (45.8%), shoulder height asymmetry (35%), distortion of Achilles tendons to the outside (30%), excessive curvature of lower bac

ObjectiveTo determine if multiple doses of erythropoietin (Epo) administered with hypothermia improve neuroradiographic and short-term outcomes of newborns with hypoxic-ischemic encephalopathy.MethodsIn a phase II double-blinded, placebo-controlled trial, we randomized newborns to receive Epo (1000 U/kg intravenously; n = 24) or placebo (n = 26) at 1, 2, 3, 5, and 7 days of age. All infants had moderate/severe encephalopathy; perinatal depression (10 minute Apgar <5, pH <7.00 or base deficit ≥15, or resuscitation at 10 minutes); and received hypothermia. Primary outcome was neurodevelopment at 12 months assessed by the Alberta Infant Motor Scale and Warner Initial Developmental Evaluation. Two independent observers rated MRI brain injury severity by using an established scoring system.ResultsThe mean age at first study drug was 16.5 hours (SD, 5.9). Neonatal deaths did not significantly differ between Epo and placebo groups (8% vs 19%, P = .42). Brain MRI at mean 5.1 days (SD, 2.3) showed a lower global brain injury score in Epo-treated infants (median, 2 vs 11, P = .01). Moderate/severe brain injury (4% vs 44%, P = .002), subcortical (30% vs 68%, P = .02), and cerebellar injury (0% vs 20%, P = .05) were less frequent in the Epo than placebo group. At mean age 12.7 months (SD, 0.9), motor performance in Epo-treated (n = 21) versus placebo-treated (n = 20) infants were as follows: Alberta Infant Motor Scale (53.2 vs 42.8, P = .03); Warner Initial Developmental Evaluation (28.6 vs 23.8, P = .05).ConclusionsHigh doses of Epo given with hypothermia for hypoxic-ischemic encephalopathy may result in less MRI brain injury and improved 1-year motor function.

The Ministry of Health of the Russian Federation acknowledges the sharp rise in the prevalence of congenital malformation in this country during the past 30 years. In 2010-2011, this pathology was estimated to occur in 3% of the children. It includes a variety of locomotor and coordination disorders of which the most widespread are infantile cerebral paralysis, ataxia, consequences of perinatal lesions of the central nervous system, etc. This article contains a detailed description of these locomotor and coordination disorders.AIM: The objective of the present work was to elaborate and evaluate the program for the formation of the self-maintenance skills in the pre-school children presenting with locomotor and coordination disorders under conditions of family guidance and education.PATIENTS AND METHODS: The study was carried out from September 2013 till May 2014 based at MUP DOD "Semeiny klub Nadezhda" ("The Hope Family Club", Municipal unitary facility for children's additional education) and supported by B.N. El'tsin Ural Federal University. It included 10 children suffering from locomotor and coordination disorders of different severity and members of their families. The following methods were used: the self-service skills scorecard , monitoring formation of the motor skills, and Wilcoxon's T-test.RESULTS: The use of the program based on the cooperation with the children's families allowed to achieve positive dynamics in the patients' conditions. Moreover, 30% of them acquired the full scope of the self-maintenance skills. The most pronounced changes in the motor abilities were apparent in the movements of the upper and lower extremitis, walking, and motion in space.CONCLUSION: The proposed program for the formation of the self-maintenance skills in the pre-school children presenting with locomotor and coordination disorders proved to be highly efficacious. The study has demonstrated the importance of the parents' involvement in the process of formation of the se

To determine if multiple doses of erythropoietin (Epo) administered with hypothermia improve neuroradiographic and short-term outcomes of newborns with hypoxic-ischemic encephalopathy. In a phase II double-blinded, placebo-controlled trial, we randomized newborns to receive Epo (1000 U/kg intravenously; n = 24) or placebo (n = 26) at 1, 2, 3, 5, and 7 days of age. All infants had moderate/severe encephalopathy; perinatal depression (10 minute Apgar <5, pH <7.00 or base deficit ≥15, or resuscitation at 10 minutes); and received hypothermia. Primary outcome was neurodevelopment at 12 months assessed by the Alberta Infant Motor Scale and Warner Initial Developmental Evaluation. Two independent observers rated MRI brain injury severity by using an established scoring system. The mean age at first study drug was 16.5 hours (SD, 5.9). Neonatal deaths did not significantly differ between Epo and placebo groups (8% vs 19%, P = .42). Brain MRI at mean 5.1 days (SD, 2.3) showed a lower global brain injury score in Epo-treated infants (median, 2 vs 11, P = .01). Moderate/severe brain injury (4% vs 44%, P = .002), subcortical (30% vs 68%, P = .02), and cerebellar injury (0% vs 20%, P = .05) were less frequent in the Epo than placebo group. At mean age 12.7 months (SD, 0.9), motor performance in Epo-treated (n = 21) versus placebo-treated (n = 20) infants were as follows: Alberta Infant Motor Scale (53.2 vs 42.8, P = .03); Warner Initial Developmental Evaluation (28.6 vs 23.8, P = .05). High doses of Epo given with hypothermia for hypoxic-ischemic encephalopathy may result in less MRI brain injury and improved 1-year motor function.

Introduction: Developmental Coordination Disorder (DCD) in childhood is a major public health issue due to its consequences for child development from the motor, cognitive, psychosocial and emotional perspectives, and its comorbidities are common with other developmental disorders in children as well. This study characterizes the association of DCD features with behavior problems in children from Bucaramanga city, Colombia. Materials and methods: This cross-sectional study was conducted in a random sample of 140 children aged 6 to 12 years old that belonged to educational institutions. A structured interview and questionnaires were applied in order to determine the presence of DCD features and behavior problems. A univariate descriptive analysis led to a socio-demographic characterization and a Spearman’s rank correlation coefficient. Results: Results showed a prevalence of 3.6% of DCD features in the population, and a negative association of Rho = -0.263 with p value = 0.002 among DCD features and behavior problems reported by parents. Discussion: The prevalence of DCD features in Bucaramanga was lower concerning the prevalence reported internationally. The association among dcd features and behavior problems in this city is low but statistically significant., Introdução: o transtorno do Desenvolvimento da Coordenação tdc na infância é uma problemática importante desde a saúde pública, já que tem repercussões para o desenvolvimento infantil desde as dimensões motoras, cognitiva, psicossocial e emocional, e ao mesmo tempo são frequentes suas comorbilidades com outros transtornos do desenvolvimento infantil. O presente estudo analisa a associação de características de tdc com os problemas de conduta em crianças da cidade de Bucaramanga, Colômbia. Materiais e métodos: estudo transversal, descritivo e de associação em uma amostra de 140 crianças de 6 a 12 anos, aleatorizados em instituições educativas. Se realizou entrevista estruturada e aplicação de questionários para determinar a presença de características de tdc e de problemas de conduta. Realizou-se análise descritiva univariada para a caracterizaçãosociodemográfica e provas de associação com coeficiente de correlação de Spearman. Resultados: se encontrou uma prevalência do 3,6% de características de tdc na população estudada, e uma associação negativa de Rho = -0,263 com p valor = 0,002 entre características de tdc e problemas de conduta referidos pelos pais. Discussão: a prevalência de características de tdc para Bucaramanga foi menor em relação à maioria que se reporta ao nível internacional. A associação entre características de tdc e problemas de conduta nesta cidade é baixa, mas estatisticamente significativa., Introducción: el trastorno del desarrollo de la coordinación tdc en la infancia es una problemática importante desde la salud pública, ya que tiene repercusiones para el desarrollo infantil desde las dimensiones motora, cognitiva, psicosocial y emocional y, al mismo tiempo, son frecuentes sus comorbilidades con otros trastornos del desarrollo infantil. El presente estudio analiza la asociación de características de tdc con los problemas de conducta en niños de la ciudad de Bucaramanga, Colombia. Materiales y métodos: Estudio transversal, descriptivo y de asociación, en una muestra de 140 niños de 6 a 12 años de edad, aleatorizados en instituciones educativas. Se realizó entrevista estructurada y aplicación de cuestionarios para determinar la presencia de características de tdc y de problemas de conducta. Se realizó análisis descriptivo univariado para la caracterización sociodemográfica y pruebas de asociación con coeficiente de correlación de Spearman. Resultados: se encontró una prevalencia del 3,6 % de características de tdc en la población estudiada, y una asociación de Rho = -0,263 con p valor = 0,002 entre características de tdc y problemas de conducta referidos por los padres. Discusión: la prevalencia de características de tdc para Bucaramanga fue menor en relación con la mayoría que se reporta a nivel internacional. La asociación entre características de tdc y problemas de conducta en esta ciudad es baja pero estadísticamente significativa.

Children with unilateral Cerebral Palsy (uCP) experience problems performing tasks requiring the coordinated use of both hands (bimanual coordination; BC). Additionally, some children with uCP display involuntary symmetrical activation of the opposing hand (mirrored movements). Measures, used to investigate therapy-related improvements focus on the functionality of the affected hand during unimanual or bimanual tasks. None however specifically address spatiotemporal integration of both hands. We explored the kinematics of hand movements during a bimanual task to identify parameters of BC. Thirty-seven children (aged 10.9. ±. 2.6. years, 20 male) diagnosed with uCP participated. 3D kinematic motion analysis was performed during the task requiring opening of a box with their affected- (AH) or less-affected hand (LAH), and pressing a button inside with the opposite hand. Temporal and spatial components of data were extracted and related to measures of hand function and level of impairment. Total task duration was correlated with the Jebsen-Taylor Test of Hand Function in both conditions (either hand leading with the lid-opening). Spatial accuracy of the LAH when the box was opened with their AH was correlated with outcomes on the Children's Hand Use Experience Questionnaire. Additionally, we found a subgroup of children displaying non-symmetrical movement interference associated with greater movement overlap when their affected hand opened the box. This subgroup also demonstrated decreased use of the affected hand during bimanual tasks. Further investigation of bimanual interference, which goes beyond small scaled symmetrical mirrored movements, is needed to consider its impact on bimanual task performance following early unilateral brain injury.

Preterm birth interrupts normal fetal growth with consequences for postnatal growth and organ development. In preterm infants, many physiological deficits adapt and disappear with advancing postnatal age, but some may persist into childhood. We hypothesized that preterm birth would induce impaired organ growth and function during the first postnatal week in pigs, while motor abilities and behavioral characteristics would show more persistent developmental delay. Cesarean-delivered preterm (n = 112, 90% gestation) or term (n = 56, 100% gestation) piglets were reared under identical conditions and euthanized for blood and organ collection on postnatal days 0, 5, or 26. Body weight gain remained lower in preterm vs. term pigs up to day 26 (25.5 ± 1.5 vs. 31.0 ± 0.5 g·kg(-1)·day(-1), P < 0.01) when relative weights were higher for brain and kidneys and reduced for liver and spleen. Neonatal preterm pigs had reduced values for blood pH, Po2, glucose, lactate, hematocrit, and cortisol, but at day 26, most values were normalized, although plasma serotonin and IGF 1 levels remained reduced. Preterm pigs showed delayed neonatal arousal and impaired physical activity, coordination, exploration, and learning, relative to term pigs (all P < 0.05). Supplementation of parenteral nutrition during the first 5 days with an enteral milk diet did not affect later outcomes. In preterm pigs, many physiological characteristics of immaturity disappeared by 4 wk, while some neurodevelopmental deficits remained. The preterm pig is a relevant animal model to study early dietary and pharmacological interventions that support postnatal maturation and neurodevelopment in preterm infants.

Occupational therapy is in charge of the training and the rehabilitation of the daily life activities on a cognitive and motor level. Inside this discipline, the biomechanical model is based on the kinetik and cinematic principles for the recovery of the thin and thick motility abilities. In the clinical case that we present, the patient suffered from motor alterations on the right distal extremity due to a puncture wound which had cut nerves and blood vessels. He required the restoration of his lost skills by means of the service of the occupational therapy. This was carried out through different techniques and activities aimed at the patient's necessities and interests that were more motivating for him. This way, the established objectives and the restoration of some of his lost abilities were achieved, La terapia ocupacional se encarga del entrenamiento y la rehabilitación de las actividades de la vida diaria a nivel cognitivo y motor. Dentro de esta disciplina, el modelo biomecánico se basa en los principios cinéticos y cinemáticos para la recuperación de habilidades de motricidad fina y gruesa. En el caso clínico que presentamos el paciente padecía alteraciones motoras en la extremidad distal derecha debido a una herida punzocortante que le seccionó nervios y vasos sanguíneos. Precisó de la restauración de sus destrezas perdidas mediante el servicio de terapia ocupacional. Este se realizó a través de diferentes técnicas y actividades dirigidas a las necesidades del paciente y a los intereses que más le motiven. De esta manera se pudo llegar a los objetivos establecidos y al restablecimiento de algunas de sus capacidades perdidas

AIM: The aim of this study was to examine how fever during pregnancy is associated with motor development in the child.METHOD: This cohort study was based on data from females and their children, from the Danish National Birth Cohort, who took part in an 18-month and/or 7-year follow-up study. Information regarding fever (number of episodes, temperature, duration, and pregnancy week) was obtained around gestation week 12 and at the end of pregnancy. Assessments of motor development in early childhood were based on the ages at which the motor milestones 'sitting unsupported' (n=44,256) and 'walking unassisted' (n=53,959) were attained. The Developmental Coordination Disorder Questionnaire 2007 (DCDQ'07) was used to identify children with indication of developmental coordination disorder (DCD) at age 7 years (n=29,401). Any associations between the exposure to fever during pregnancy and motor development were estimated using Cox regression and logistic regression analyses.RESULTS: Fever during pregnancy was reported by 15,234 (28.0%) participants in the 18-month follow-up and by 7965 (26.9%) participants in the 7-year follow-up. Adjusted analyses showed no association between prenatal exposure to fever and either 'sitting unsupported' or 'walking unassisted'. The proportion of children with indication of DCD was 3.1%. The odds ratio of indication of DCD if children were exposed to fever in utero was 1.29 (95% CI 1.12-1.49). However, no dose-response association was found.INTERPRETATION: We found a significant association between maternal fever during pregnancy and DCD in children at age 7 years. The lack of a dose-response association might suggest that this association is explained by the underlying causes of the fever.

Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed KCNQ2 encephalopathy.(3,4) This is a rare condition and all patients reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording. We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies.

ImportanceData on the long-term cognitive outcomes of patients with PARKIN-associated Parkinson disease (PD) are unknown but may be useful when counseling these patients.ObjectiveAmong patients with early-onset PD of long duration, we assessed cognitive and motor performances, comparing homozygotes and compound heterozygotes who carry 2 PARKIN mutations with noncarriers.Design, setting, and participantsCross-sectional study of 44 participants at 17 different movement disorder centers who were in the Consortium on Risk for Early-Onset PD study with a duration of PD greater than the median duration (>14 years): 4 homozygotes and 17 compound heterozygotes (hereafter referred to as carriers) and 23 noncarriers.Main outcomes and measuresUnified Parkinson Disease Rating Scale Part III (UPDRS-III) and Clinical Dementia Rating scores and neuropsychological performance. Linear regression models were applied to assess the association between PARKIN mutation status and cognitive domain scores and UPDRS-III scores. Models were adjusted for age, education, disease duration, language, and levodopa equivalent daily dose.ResultsCarriers had an earlier age at onset of PD (P < .001) and were younger (P = .004) at time of examination than noncarriers. They performed better than noncarriers on the Mini-Mental State Examination (P = .010) and were more likely to receive lower scores on the Clinical Dementia Rating (P = .003). In multivariate analyses, carriers performed better than noncarriers on the UPDRS-III (P = .02) and on tests of attention (P = .03), memory (P = .03), and visuospatial (P = .02) cognitive domains.Conclusions and relevanceIn cross-sectional analyses, carriers demonstrated better cognitive and motor performance than did noncarriers with long disease duration, suggesting slower disease progression. A longitudinal follow-up study is required to confirm these findings.

Background: Children with Developmental Co-ordination Disorder (DCD) experience poor motor and psychosocial outcomes. Interventions are often limited within the healthcare system, and little is known about how technology might be used within schools or homes to promote the motor skills and/or psychosocial development of these children. This study aimed to evaluate whether short, regular school-based sessions of movement experience using a commercially available home video game console (Nintendo's Wii Fit) would lead to benefits in both motor and psychosocial domains in children with DCD. Methods: A randomized crossover controlled trial of children with movement difficulties/DCD was conducted. Children were randomly assigned to an intervention (n = 10) or comparison (n = 8) group. The intervention group spent 10min thrice weekly for 1 month using Wii Fit during the lunch break, while the comparison group took part in their regular Jump Ahead programme. Pre- and post-intervention assessments considered motor proficiency, self-perceived ability and satisfaction and parental assessment of emotional and behavioural problems. Results: Significant gains were seen in motor proficiency, the child's perception of his/her motor ability and reported emotional well-being for many, but not all children. Conclusions: This study provides preliminary evidence to support the use of the Wii Fit within therapeutic programmes for children with movement difficulties. This simple, popular intervention represents a plausible method to support children's motor and psychosocial development. It is not possible from our data to say which children are most likely to benefit from such a programme and particularly what the dose and duration should be. Further research is required to inform across these and other questions regarding the implementation of virtual reality technologies in therapeutic services for children with movement difficulties.

Rett syndrome (RTT) is a rare, severe neurodevelopmental disorder, which partly develops in a predictable way, and influences many bodily functions. Regression, i.e. loss of earlier achieved abilities, is one of the clinical criteria for RTT. Research on motor function has to some extent focused on this loss, and less on the possibility to keep, regain or develop abilities. RTT is mainly verified in girls/women, and the prevalence of classic RTT in Sweden for girls born between 1965 and 1976 was 1 in 10.000-12.000. Clinical criteria are used for diagnosis, but since 1999 RTT can be confirmed by a genetic test. As there is no cure so far, development of clinical intervention and management is important, and with good treatment it is possible to improve quality of life. The main aim was to acquire more knowledge about motor development in RTT, both, early development, and development over time. Another aim was to study if there were deviating orthostatic reactions when rising from sitting to standing, and during standing, compared with normally developed, healthy people, matched by sex and age. Clinical experience as well as reports from parents showed that some people with RTT had lost abilities, some had been able to keep abilities, and some had been able to learn new abilities after regression. For good results, the person with RTT had to be motivated, and the intervention jointly planned; it was also important to realize that dyspraxia causes dependence on other people’s initiatives. Information about one person with RTT, collected over several years, showed the possibility to develop in some areas over time and the tendency to deteriorate in other areas. Studying orthostatic reactions when rising to standing, and standing for three minutes, revealed that those with RTT mainly had the same reactions as the healthy controls. The quicker initial drop in systolic blood pressure in people with RTT, when rising, has not been documented earlier. In conclusion, this th

Rett syndrome (RTT) is a rare, severe neurodevelopmental disorder, which partly develops in a predictable way, and influences many bodily functions. Regression, i.e. loss of earlier achieved abilities, is one of the clinical criteria for RTT. Research on motor function has to some extent focused on this loss, and less on the possibility to keep, regain or develop abilities. RTT is mainly verified in girls/women, and the prevalence of classic RTT in Sweden for girls born between 1965 and 1976 was 1 in 10.000-12.000. Clinical criteria are used for diagnosis, but since 1999 RTT can be confirmed by a genetic test. As there is no cure so far, development of clinical intervention and management is important, and with good treatment it is possible to improve quality of life. The main aim was to acquire more knowledge about motor development in RTT, both, early development, and development over time. Another aim was to study if there were deviating orthostatic reactions when rising from sitting to standing, and during standing, compared with normally developed, healthy people, matched by sex and age. Clinical experience as well as reports from parents showed that some people with RTT had lost abilities, some had been able to keep abilities, and some had been able to learn new abilities after regression. For good results, the person with RTT had to be motivated, and the intervention jointly planned; it was also important to realize that dyspraxia causes dependence on other people’s initiatives. Information about one person with RTT, collected over several years, showed the possibility to develop in some areas over time and the tendency to deteriorate in other areas. Studying orthostatic reactions when rising to standing, and standing for three minutes, revealed that those with RTT mainly had the same reactions as the healthy controls. The quicker initial drop in systolic blood pressure in people with RTT, when rising, has not been documented earlier. In conclusion, this th

Prior case reports have identified neurodevelopmental abnormalities in children with PHACE syndrome, a neurocutaneous disorder first characterized in 1996. In this multicenter, retrospective study of a previously identified cohort of 93 children diagnosed with PHACE syndrome from 1999 to 2010, 29 children had neurologic evaluations at ≥ 1 year of age (median age: 4 years, 2 months). In all, 44% had language delay, 36% gross motor delay, and 8% fine motor delay; 52% had an abnormal neurological exam, with speech abnormalities as the most common finding. Overall, 20 of 29 (69%) had neurodevelopmental abnormalities. Cerebral, but not posterior fossa, structural abnormalities were identified more often in children with abnormal versus normal neurodevelopmental outcomes (35% vs. 0%, P = .04). Neurodevelopmental abnormalities in young children with PHACE syndrome referred to neurologists include language and gross motor delay, while fine motor delay is less frequent. Prospective studies are needed to understand long-term neurodevelopmental outcomes.

Prior case reports have identified neurodevelopmental abnormalities in children with PHACE syndrome, a neurocutaneous disorder first characterized in 1996. In this multicenter, retrospective study of a previously identified cohort of 93 children diagnosed with PHACE syndrome from 1999 to 2010, 29 children had neurologic evaluations at ≥ 1 year of age (median age: 4 years, 2 months). In all, 44% had language delay, 36% gross motor delay, and 8% fine motor delay; 52% had an abnormal neurological exam, with speech abnormalities as the most common finding. Overall, 20 of 29 (69%) had neurodevelopmental abnormalities. Cerebral, but not posterior fossa, structural abnormalities were identified more often in children with abnormal versus normal neurodevelopmental outcomes (35% vs. 0%, P = .04). Neurodevelopmental abnormalities in young children with PHACE syndrome referred to neurologists include language and gross motor delay, while fine motor delay is less frequent. Prospective studies are needed to understand long-term neurodevelopmental outcomes.

The microtubule-associated protein tau is expressed throughout the nervous system, most highly in neurons but also in glial cells. Its functions in adult and aging mammals remain to be defined. Previous studies in mouse models found either protective or detrimental effects of genetic tau ablation. Though tau ablation prevented synaptic, network, and cognitive dysfunctions in several models of Alzheimer's disease and made mice more resistant to epileptic seizures, a recent study described a parkinsonian phenotype in aging Tau knockout mice. Here we tested cognition and motor functions in Tau(+/+), Tau(+/-), and Tau(-/-) mice at approximately 1 and 2 years of age. Tau ablation did not impair cognition and caused only minor motor deficits that were much more subtle than those associated with the aging process. Tau ablation caused a mild increase in body weight, which correlated with and might have contributed to some of the motor deficits. However, tau ablation did not cause significant dopaminergic impairments, and dopamine treatment did not improve the motor deficits, suggesting that they do not reflect extrapyramidal dysfunction.

Congenital muscular torticollis is a common condition, but long-term neurodevelopmental follow-up is lacking. This study reports on neurodevelopmental outcome of 68 children, aged 7 to 9 years, with a history of congenital muscular torticollis, excluding children with torticollis due to other conditions. Thirty-eight children were examined for presence of neurodevelopmental disorders. Telephone interview data were available for an additional 30 children. Of those examined, 22/38 (57.9%) had or were at risk for a developmental disorder (attention-deficit hyperactivity disorder (ADHD), developmental coordination disorder, language impairment, autistic spectrum disorder) on at least 1 of the assessments administered, 23/38 (60.5%) had received developmental treatment during childhood. One child, based on a telephone interview, had a history of developmental treatment. Therefore, 30/68 (44.1%) children of the total sample demonstrated a developmental delay/disorder, currently (22/68) or previously (8/68). Our findings suggest congenital muscular torticollis to be a significant risk factor for later neurodevelopmental conditions with disorders presenting at different stages of development.

Rett syndrome (RTT) is a rare, severe neurodevelopmental disorder, which partly develops in a predictable way, and influences many bodily functions. Regression, i.e. loss of earlier achieved abilities, is one of the clinical criteria for RTT. Research on motor function has to some extent focused on this loss, and less on the possibility to keep, regain or develop abilities. RTT is mainly verified in girls/women, and the prevalence of classic RTT in Sweden for girls born between 1965 and 1976 was 1 in 10.000-12.000. Clinical criteria are used for diagnosis, but since 1999 RTT can be confirmed by a genetic test. As there is no cure so far, development of clinical intervention and management is important, and with good treatment it is possible to improve quality of life. The main aim was to acquire more knowledge about motor development in RTT, both, early development, and development over time. Another aim was to study if there were deviating orthostatic reactions when rising from sitting to standing, and during standing, compared with normally developed, healthy people, matched by sex and age. Clinical experience as well as reports from parents showed that some people with RTT had lost abilities, some had been able to keep abilities, and some had been able to learn new abilities after regression. For good results, the person with RTT had to be motivated, and the intervention jointly planned; it was also important to realize that dyspraxia causes dependence on other people’s initiatives. Information about one person with RTT, collected over several years, showed the possibility to develop in some areas over time and the tendency to deteriorate in other areas. Studying orthostatic reactions when rising to standing, and standing for three minutes, revealed that those with RTT mainly had the same reactions as the healthy controls. The quicker initial drop in systolic blood pressure in people with RTT, when rising, has not been documented earlier. In conclusion, this th

Rett syndrome (RTT) is a rare, severe neurodevelopmental disorder, which partly develops in a predictable way, and influences many bodily functions. Regression, i.e. loss of earlier achieved abilities, is one of the clinical criteria for RTT. Research on motor function has to some extent focused on this loss, and less on the possibility to keep, regain or develop abilities. RTT is mainly verified in girls/women, and the prevalence of classic RTT in Sweden for girls born between 1965 and 1976 was 1 in 10.000-12.000. Clinical criteria are used for diagnosis, but since 1999 RTT can be confirmed by a genetic test. As there is no cure so far, development of clinical intervention and management is important, and with good treatment it is possible to improve quality of life. The main aim was to acquire more knowledge about motor development in RTT, both, early development, and development over time. Another aim was to study if there were deviating orthostatic reactions when rising from sitting to standing, and during standing, compared with normally developed, healthy people, matched by sex and age. Clinical experience as well as reports from parents showed that some people with RTT had lost abilities, some had been able to keep abilities, and some had been able to learn new abilities after regression. For good results, the person with RTT had to be motivated, and the intervention jointly planned; it was also important to realize that dyspraxia causes dependence on other people’s initiatives. Information about one person with RTT, collected over several years, showed the possibility to develop in some areas over time and the tendency to deteriorate in other areas. Studying orthostatic reactions when rising to standing, and standing for three minutes, revealed that those with RTT mainly had the same reactions as the healthy controls. The quicker initial drop in systolic blood pressure in people with RTT, when rising, has not been documented earlier. In conclusion, this th

The aim of this study was to investigate early life determinants of developmental coordination disorder (DCD) in 7-year-old children.

The aim of this study was to investigate early life determinants of developmental coordination disorder (DCD) in 7-year-old children.

Rett syndrome (RTT) is a rare, severe neurodevelopmental disorder, which partly develops in a predictable way, and influences many bodily functions. Regression, i.e. loss of earlier achieved abilities, is one of the clinical criteria for RTT. Research on motor function has to some extent focused on this loss, and less on the possibility to keep, regain or develop abilities. RTT is mainly verified in girls/women, and the prevalence of classic RTT in Sweden for girls born between 1965 and 1976 was 1 in 10.000-12.000. Clinical criteria are used for diagnosis, but since 1999 RTT can be confirmed by a genetic test. As there is no cure so far, development of clinical intervention and management is important, and with good treatment it is possible to improve quality of life. The main aim was to acquire more knowledge about motor development in RTT, both, early development, and development over time. Another aim was to study if there were deviating orthostatic reactions when rising from sitting to standing, and during standing, compared with normally developed, healthy people, matched by sex and age. Clinical experience as well as reports from parents showed that some people with RTT had lost abilities, some had been able to keep abilities, and some had been able to learn new abilities after regression. For good results, the person with RTT had to be motivated, and the intervention jointly planned; it was also important to realize that dyspraxia causes dependence on other people’s initiatives. Information about one person with RTT, collected over several years, showed the possibility to develop in some areas over time and the tendency to deteriorate in other areas. Studying orthostatic reactions when rising to standing, and standing for three minutes, revealed that those with RTT mainly had the same reactions as the healthy controls. The quicker initial drop in systolic blood pressure in people with RTT, when rising, has not been documented earlier. In conclusion, this th

pp. 139-145, Background Few co-morbidity studies have been conducted since the Leeds Consensus Statement on developmental co-ordination disorder (DCD) in 2006. In this Statement, international cut-offs and inclusion criteria were agreed and consequently, the status of DCD changed. Furthermore, most existing co-morbidity studies are small clinical studies, rather than epidemiological studies, resulting in a broad range of co-morbidity rates.DCD has a higher incidence for boys in comparison with girls; questions arise if this preponderance remains the same in combination with other developmental disorders.Therefore, in this study we aimed to determine co-morbidity and gender differences of motor problems in children with a pervasive developmental disorder, a hyperkinetic disorder and/or a speech, language or learning disability. Methods Profiles of 3608 children (mean age: 9 years 1 month) referred to rehabilitation centres for behavioural, developmental and sensorineural disorders were studied. Results Motor problems were reported in one-fifth of the total sample. Co-morbidity of motor problems in specific disorders varied from almost one-fourth to more than one-third. The male/ female ratio was significantly higher in children with motor problems and two or more other disorders, compared with children with motor problems and less than two other disorders. Conclusions This study indicates that co-morbidity of motor problems with other clinical disorders is not exceptional and developmental deviance is seldom specific to one domain. However, current co-morbidity studies tend to overestimate the number of children with motor problems. In addition, there may be different patterns of symptoms between the genders. These findings stress the importance of assessing motor skills in children with various developmental disorders.

The Developmental Coordination Disorder Questionnaire (DCDQ) is a parent-completed measure designed to identify subtle motor problems in children of 8 to 14.6 years of age. The purpose of this study was to extend the lower age range to children aged 5 to 7 years, revise items to ensure clarity, develop new scoring, and evaluate validity of the revised questionnaire. Additional items with improved wording were generated by an expert panel. Analyses of internal consistency, factor loading, and qualitative/quantitative feedback from researchers, clinicians, and parents were used to select 15 items with the strongest psychometric properties. Internal consistency was high (alpha = .94). The expanded questionnaire was completed by the parents of 287 children, aged 5-15 years, who were typically developing. Logistic regression modeling was used to generate separate cutoff scores for three age groups (overall sensitivity = 85%, specificity = 71%). The revised DCDQ was then compared to other standardized measures in a sample of 232 children referred for therapy services. Differences in scores between children with and without DCD (p < .001) provide evidence of construct validity. Correlations between DCDQ scores and Movement Assessment Battery for Children (r = .55) and Test of Visual-Motor Integration (r = .42) scores support concurrent validity. The results provide evidence that the revised DCDQ is a valid clinical screening tool for DCD.

Aim: We undertook this study to explore the degree of impairment in movement skills in children with autistic spectrum disorders (ASD) and a wide IQ range. Methods: Movement skills were measured using the Movement Assessment Battery for Children (M-ABC) in a large, well defined, population-derived group of children (n = 101: 89 males, 12 females; mean age 11 y 4 mo, SD 10 mo; range 10 y-14 y 3 mo) with childhood autism and broader ASD and a wide range of IQ scores. Additionally, we tested whether a parent-completed questionnaire, the Developmental Coordination Disorder Questionnaire (DCDQ), was useful in identifying children who met criteria for movement impairments after assessment (n = 97 with complete M-ABCs and DCDQs). Results: Of the children with ASD, 79% had definite movement impairments on the M-ABC; a further 10% had borderline problems. Children with childhood autism were more impaired than children with broader ASD, and children with an IQ less than 70 were more impaired than those with IQ more than 70. This is consistent with the view that movement impairments may arise from a more severe neurological impairment that also contributes to intellectual disability and more severe autism. Movement impairment was not associated with everyday adaptive behaviour once the effect of IQ was controlled for. The DCDQ performed moderately well as a screen for possible motor difficulties. Interretation: Movement impairments are common in children with ASD. Systematic assessment of movement abilities should be considered a routine investigation.

It is well known that developmental coordination disorder (DCD) is a heterogeneous condition in which children frequently present with co-occurring conditions in addition to their motor difficulties. This study considered whether there would be a differential effect of a group treatment program on subtypes of perceptual and movement problems or associated co-occurring conditions. A subset of children (n = 43) from a larger clinical sample (n = 100) with DCD participated in a 2 frac(1, 4) year cross-over intervention study which followed the cognitive orientation to daily occupational performance (CO-OP) approach. Original subtypes were determined by contrasting the current sample with previously published subtyping studies in DCD [Hoare, D. (1994). Subtypes of developmental coordination disorder. Adapted Physical Activity Quarterly, 11, 158-169; Macnab, J. J., Miller, L. T., & Polatajko, H. J. (2001). The search for subtypes of DCD: Is cluster analysis the answer? Human Movement Science, 20, 49-72]. No advantage was conferred to any subtype although children with more profound and complex difficulties at initial assessment, despite progress following intervention, were most likely to have continuing difficulties at the end of the project.

Background: Children and parents can make valid judgments about movement difficulties, which aids in the screening and assessment of Developmental Coordination Disorder (DCD). When considering therapy outcomes, child and family-centred practice supports the inclusion of parent and child perspectives to reflect progress made in meaningful daily contexts. Purpose: This paper describes an evaluation of the use of questionnaires for parents and children to measure change in motor performance. Methods: Questionnaires were administered to 43 children with DCD and their parents five times over two-and-a-quarter years in conjunction with other clinical measures. Findings: Parent report, using the Developmental Coordination Disorder Questionnaire, correlated significantly with clinical measures of motor skill, whilst parent and child perceptions differed. Children's confidence and resilience may influence their opinions of their ability. Implications: These results raise questions of whose perspective of progress is most valid and relevant - the therapist's, child's or parent's?

The DYRK1A gene has been implicated in the degenerative process observed in Down syndrome; however, its precise role and pathogenetic mechanisms are still unclear. This paper reviews experimental work conducted in genetically modified mice with differing doses of the gene. The results suggest that DYRK1A is a dose-sensitive gene that may participate in motor and cognitive disturbances and in Alzheimer-like neuropathologic processes in persons with Down syndrome, according to the gene's expression pattern and the phosphorylation substrates identified.

OBJECTIVE: To study hand impairments and their relationship with manual ability in children with cerebral palsy. DESIGN: Cross-sectional survey. PATIENTS: A total of 101 children with cerebral palsy (mean age 10 years, age range 6-15 years) were assessed. METHODS: Three motor and 3 sensory impairments were measured on both hands. Motor impairments included grip strength (Jamar dynamometer), gross manual dexterity(Box and Block Test) and fine finger dexterity (Purdue Peg-board Test). Sensory impairments included tactile pressure detection (Semmes-Weinstein aesthesiometer), stereognosis(Manual Form Perception Test) and proprioception (passive mobilization of the metacarpophalangeal joints). Manual ability was measured with the ABILHAND-Kids questionnaire.The relationship between hand impairments and manual ability was studied through correlation coefficients and a multiple linear forward stepwise regression analysis. RESULTS: Motor impairments were markedly more prevalent than sensory ones. Gross manual dexterity on the dominant hand and grip strength on the non-dominant hand were the best independent predictors of the children's manual ability,predicting 58% of its variance. CONCLUSION: Hand impairments and manual ability are not related in a predictable straightforward relationship. It is important that, besides hand impairments, manual ability is also measured and treated, as it is not simply the integration of hand functions in daily activities.

ObjectiveTo assess intervention-specific effects on cortical reorganization after stroke as shown by available functional neuroimaging studies.Data sourcesWe searched Medline for clinical trials that contained the terms stroke, reorganization, and recovery, as well as either positron-emission tomography and PET, near-infrared spectroscopy and NIRS, single-photon emission tomography and SPECT, or functional magnetic resonance imaging and functional MRI; we reviewed primary and secondary references.Study selectionArticles that reported neuroimaging findings as a result of a specific treatment involving more than 1 subject were included.Data extractionWe included clinical trials that contained the terms stroke, reorganization, and recovery, as well as functional neuroimaging data findings as a result of a specific treatment involving more than 1 subject.Data synthesisIncluded studies differed clearly from one another with regard to patient characteristics, intervention protocol, and outcome measures. Most studies used functional magnetic resonance imaging and a motor paradigm. Studies were limited in size.ConclusionsDespite the methodologic differences, several common features can be identified based on the reviewed studies. Clinical improvements occurred even late after injury, after subjects were deemed to have reached a recovery plateau. This clinical improvement was accompanied by cortical reorganization that depended on the type of intervention as well as other factors. This review also suggests direction for future research studies.

ObjectiveTo assess intervention-specific effects on cortical reorganization after stroke as shown by available functional neuroimaging studies.Data sourcesWe searched Medline for clinical trials that contained the terms stroke, reorganization, and recovery, as well as either positron-emission tomography and PET, near-infrared spectroscopy and NIRS, single-photon emission tomography and SPECT, or functional magnetic resonance imaging and functional MRI; we reviewed primary and secondary references.Study selectionArticles that reported neuroimaging findings as a result of a specific treatment involving more than 1 subject were included.Data extractionWe included clinical trials that contained the terms stroke, reorganization, and recovery, as well as functional neuroimaging data findings as a result of a specific treatment involving more than 1 subject.Data synthesisIncluded studies differed clearly from one another with regard to patient characteristics, intervention protocol, and outcome measures. Most studies used functional magnetic resonance imaging and a motor paradigm. Studies were limited in size.ConclusionsDespite the methodologic differences, several common features can be identified based on the reviewed studies. Clinical improvements occurred even late after injury, after subjects were deemed to have reached a recovery plateau. This clinical improvement was accompanied by cortical reorganization that depended on the type of intervention as well as other factors. This review also suggests direction for future research studies.

BACKGROUND AND PURPOSE: The purpose of this study was to examine the effects of D-amphetamine (D-amph) and physical therapy separately or combined on fine motor performance, gross motor performance and cognition after middle cerebral artery thromboembolization in rats.METHODS: Seventy-four rats were trained in appropriate cognitive and motor behaviours. Thirteen animals were sham-operated and fifty-nine animals were embolized in the right carotid territory. Animals were randomly assigned to five groups: 1) SHAM (non-embolized, saline), 2) CONTROL (embolized, saline), 3) D-AMPH (embolized, D-amph), 4) THERAPY (embolized, saline + physical therapy) and 5) D-AMPH + THERAPY (embolized, D-amph + physical therapy). Rats of the groups 4-5 underwent d-amph or saline treatment on days 1, 3, 5 and 7 after surgery and were re-trained for 1 h starting 60 min after each treatment. During this time, rats were allowed to voluntarily engage in suitable cognitive or motor behaviours in order to obtain food. Animals from all groups were re-tested during days 21-28 after surgery.RESULTS: No differences in infarct volumes were observed between the groups of embolized animals. When evaluating performances on days 21-28 after surgery, rats of the SHAM and THERAPY groups had better fine motor performance than those of the CONTROL (P < 0.05), whereas rats of SHAM and D-AMPH groups achieved better cognitive performance than CONTROL rats (P < 0.05). No significant differences were observed between any groups regarding gross motor performance.CONCLUSIONS: After embolization, physical therapy improved fine motor performance and D-amph accelerated rehabilitation of cognitive performance as observed in the rats of the THERAPY and D-AMPH groups. As a result of the administration of a high dose of D-amph, the rats of the D-AMPH + THERAPY combination group failed to engage in physical therapy during D-amph intoxication, thereby limiting any promotion of rehabilitation