Search

Background Sleep difficulties have been reported in up to 85% of children with Attention Deficit hyperactivity disorder (ADHD). Children with ADHD exhibit commonly sensory modulation difficulties (SMD) and experience more significant functional difficulties. Sleep difficulties have also been associated with SMD. The aim of this study was to evaluate whether SMD are associated with sleep difficulties in children with ADHD. Methods We assessed sleep difficulties using the Children's Sleep Habits Questionnaire, and SMD using the Short Sensory Profile (SSP) questionnaire. A total of 25 children with ADHD and atypical sensory profiles, 13 children with ADHD and typical sensory profiles and 38 children used as controls (all children aged 8–11 years) were included. Results Sleep difficulties were detected in 86.4% of children with ADHD and atypical SSPs, as compared to 30.8% of children with ADHD and typical SSPs, and 16.7% of controls. A multivariate logistic regression revealed that children with ADHD and atypical SSPs had significantly increased odds for sleep difficulties as compared to controls (OR = 32.4; 95% CI 4.0–260.1, p = 0.001), while children with ADHD and typical SSPs were indistinguishable from controls. Suspected confounders (gender, age, mother's education, and stimulant therapy) did not contribute to sleep difficulties. Conclusion In this pilot study, SMD were associated with sleep difficulties in children with ADHD.

Background To provide insight on physicians’ perspectives concerning recent changes in the incidence and diagnostic process of Autism Spectrum Disorder (ASD) compared to other mental and neurodevelopmental disorders. Method A questionnaire was sent to 191 specialists in child neurology and child development, and 200 child psychiatrists in Israel. Information was collected on professional background, as well as on physicians’ opinions concerning the accuracy and rate of ASD diagnosis compared to that of cerebral palsy (CP), mental illness, and Attention Deficit Hyperactivity Disorder (ADHD). For each closed-ended question, a global chi-square test for categorical variables was performed. Results 115 (60.2%) of specialists in child neurology and development, and 59 (29.5%) of child psychiatrists responded. Most physicians (67.2%) indicated that there was a moderate/significant increase in the incidence of ASD, which was higher than similar responses provided for CP (2.9%, p p p = 0.56). 52.8% of physicians believed that in more than 10% of clinical assessments, an ASD diagnosis was given despite an inconclusive evaluation (CP: 8.6%, p p = 0.03; ADHD: 68.4%, p = 0.03). Conclusion The clinicians perceive both ASD and ADHD as over-diagnosed disorders. The shared symptomology between ASD and other disorders, coupled with heightened awareness and public de-stigmatization of ASD and with the availability of ASD-specific services that are not accessible to children diagnosed with other conditions, might lead clinicians to over-diagnose ASD. It is advisable to adopt an approach in which eligibility for treatments is conditional on function, rather than solely on a diagnosis. The medical community should strive for accurate diagnoses and a continuous review of diagnostic criteria.

Children with ASD show great variability in their overall linguistic profile. ASD and developmental language disorders (DLD) are seen today as co-morbid conditions. Researchers differentiate between individuals with ASD who have language impairments (ALI-Autism Language Impaired) and those who develop typical language (ALN- Autism Language Normal). This chapter describes the difference between communication, language comprehension, and speech production which together constitute the areas that dictate the linguistic profile of individuals with ASD.

Objectives To evaluate the sex-specific effects of stimulants in children with attention-deficit/hyperactivity disorder (ADHD) on body mass index (BMI) z and height z trajectories. Study design A retrospective cohort study using the database of Israel Clalit Health Services was performed. Participants included 5- to 18-year-old insured patients with documentation of at least 2 consecutive prescriptions of stimulant drugs for ADHD. Participants were further compared with sex- and age-matched insured control patients without ADHD. Results A total of 4561 (66% boys) participants with ADHD were included. Of these, 2151 (70% boys) had follow-up data for ≥2 years of treatment. A decline of ≥1 SD in height and BMI z score was observed in 10.1% and 13.2% of the cohort, respectively. During ≥2 years follow-up, boys had a greater decline in height z score (~0.2 SD) than girls (~0.06 SD). Boys' height z score continued to decline after 1 and ≥2 years, and girls' height z score declined after 1 year, and then stabilized. The trajectory of BMI z score of boys and girls was similar, showing a greater decline after 1 year, followed by an incline after ≥2 years. Younger age at stimulants initiation, better adherence, longer treatment duration, and lower socioeconomic status were correlated with a greater impact on growth attenuation. The non-ADHD group (n = 4561, 66% boys) had baseline height z score and BMI z score similar to those in children with ADHD before treatment initiation. Height z score and BMI z score were greater in children without ADHD compared with children with ADHD following 1 year of treatment (P Conclusions These findings highlight the importance of growth monitoring accompanied with dietary counseling in children with ADHD treated with stimulants.

Coordination is often observed as body parts moving together. However, when producing force with multiple fingers, the optimal coordination is not to produce similar forces with each finger, but rather for each finger to correct mistakes of other fingers. In this study, we aim to determine whether and how this skill develops in children aged 4-12 years. We measured this sort of coordination using the uncontrolled manifold hypothesis (UCM). We recorded finger forces produced by 60 typically developing children aged between 4 and 12 years in a finger-pressing task. The children controlled the height of an object on a screen by the total amount of force they produced on force sensors. We found that the synergy index, a measure of the relationship between "good" and "bad" variance, increased linearly as a function of age. This improvement was achieved by a selective reduction in "bad" variance rather than an increase in "good" variance. We did not observe differences between males and females, and the synergy index was not able to predict outcomes of upper limb behavioral tests after controlling for age. As children develop between the ages of 4 and 12 years, their ability to produce negative covariation between their finger forces improves, likely related to their improved ability to perform dexterous tasks.

(i) To compare children with DCD and typically developing participants via standard motor assessments, two interactive virtual games, measures of physical, social and cognitive self-competence and feedback while playing the virtual games and (ii) To examine the contribution of age and each motor assessment to predict self-competence.Participants were 25 boys with DCD and 25 typically developing boys, aged 5-9 years. They completed the M-ABC-2, the Pictorial Scale of Perceived Competence, the 6-Minute Walk Test, and then played the two Kinect games and completed the Short Feedback Questionnaire for Children.Children with DCD showed lower physical competence and lower performance than the typical controls in all standard motor assessments. This performance significantly correlated with the children achievements in part of virtual games and with their self-perceived experience while performing within virtual environments. Among the DCD group, Kinect Running game significantly predicted physical and social competence.The significant correlations between the virtual games and standard motor assessments support the feasibility of using these games when evaluating children with DCD for the richer profile they provide. Implications for rehabilitation Clinicians should refer to the impacts of DCD on child's self-competence and daily life. Technological rehabilitation and the use of VR games have the potential to improve self-competence of children with DCD. By including VR games that simulate real life in the intervention for DCD, clinicians may raise child's enjoyment, self-competence and involvement in therapy.

Introduction: Non-adherence to efficacious pharmacotherapy is a major obstacle in the treatment of children suffering from attention deficit hyperactive disorder (ADHD). Some hold the position that pharmacotherapy induces anxiety, and that this is one of the reasons for this non-adherence. Previous studies have pointed to the opposite, a moderating effect of methylphenidate (MPH) on state anxiety in patients with ADHD. This has been shown in continuous treatment in children, but not on a single dose. We hypothesized that a single dose might have a different effect. Method: Twenty children with ADHD were given single doses of MPH in a randomized, controlled, crossover, double blind study. State anxiety using The Spielberger State-Trait Anxiety Inventory (STAI) and a continuous performance test were assessed. Results: As a group, no change was detected in state anxiety with MPH or placebo. However, children who were given MPH during the first session as opposed to those who received placebo first, demonstrated deterioration in baseline state anxiety in the second session [t(2.485), p < 0.05]. Conclusion: Our findings show a possible delayed anxiety-provoking effect of a single dose of MPH. This may be relevant to the understanding of difficulties in adherence with MPH treatment in children with ADHD. Clinical Trial Registration: www.ClinicalTrials.gov, identifier: {"type":"clinical-trial","attrs":{"text":"NCT01798459","term_id":"NCT01798459"}}NCT01798459

A journal's impact factor (IF) may be boosted by increasing self-citations. We aimed to determine the self-citation rate (SCR) of pediatric journals registered in the Journal Citations Report (JCR), to evaluate the impact of SCR upon the IF and to determine the effect of the SCR of a journal on its IF. We found 117 journals categorized as pediatric journals by the JCR (as of 2013). The median and range of SCR, IF and corrected IF (IF without self-citations) were 9 % (0---30 %), 1.54 (0---6.35) and 1.37 (0---5.87) respectively. No differences were found between general and subspecialty journals in terms of SCR, IF or corrected IF. Spearman's ranked correlation showed that IF was significantly and inversely correlated with SCR (r = ź0.28, P = 0.002; R2 = 0.08). There was a significant difference between IF and corrected IF among all journals (1.74 ± 1.04 vs 1.59 ± 0.98, P < 0.001). Self-citation is relatively rare in pediatric journals. Importantly and unlike other fields of medicine, self-citation was found to be more prevalent in journals with a lower IF and also with lower corrected IF.

Purpose: The purpose was to examine whether children diagnosed with motor problems in the preschool period still exhibit motor problems at school age and the impact of these difficulties on participation. Method: The study group comprised 60 children 7-12 years old who were referred to occupational therapy 4-6 years prior to study initiation due to motor difficulties. The control group comprised 28 age-matched children with typical development. Parents completed the Participation, Developmental Coordination Disorder and Performance Skill Questionnaire 4-6 years after treatment. Results: Significant differences were found between children with and without motor difficulties in motor function, but not in any of the participation domains except for parental satisfaction. Children in the control group had significantly higher scores than children with motor difficulties in motor and process skills. Conclusions: Motor difficulties persist into school years. Children with motor difficulties manifest performance skill problems, however they succeed in narrowing the gap and participate similar to their peers.

Prosody production is highly personalized, related to both the emotional and cognitive state of the speaker and to the task being performed. Fundamental frequency (F main) is a central measurable feature of prosody, associated with having an attention deficit hyperactive disorder (ADHD). Since methylphenidate is an effective therapy for ADHD, we hypothesized that it will affect the fundamental frequency of ADHD patients.The answers of 32 adult ADHD patients were recorded while performing two computerized tasks (cognitive and emotional). Evaluations were performed at baseline and an hour after patients received methylphenidate.A significant effect of methylphenidate was observed on the fundamental frequency, as opposed to other parameters, of prosody. This change was evident while patients performed a cognitive, as opposed to an emotional, task. This change was seen in the 14 female ADHD patients but not in the 18 male ADHD patients. The fundamental frequency while performing a cognitive task without methylphenidate was not different in the female ADHD group, from 22 female controls.This pilot study supports prosodic changes as possible objective and accessible dynamic biological marker of treatment responses specifically in female ADHD.

Naming is a complex, multi-level process. It is composed of distinct semantic and phonological levels. Children with naming deficits produce different error types when failing to retrieve the target word. This study explored the error characteristics of children with language impairment compared to those with typical language development. 46 preschool children were tested on a naming test: 16 with language impairment and a naming deficit and 30 with typical language development. The analysis compared types of error in both groups. In a group level, children with language impairment produced different error patterns compared to the control group. Based on naming error analysis and performance on other language tests, two case studies of contrasting profiles suggest different sources for lexical retrieval difficulties in children. The findings reveal differences between the two groups in naming scores and naming errors, and support a qualitative impairment in early development of children with naming deficits. The differing profiles of naming deficits emphasise the importance of including error analysis in the diagnosis.

Background In 2003, several hundred Israeli infants risked thiamine deficiency after being fed a soy-based formula deficient in thiamine. Approximately 20 patients were seriously affected, and three of them died. We report the clinical presentation of acute encephalopathy in 11 children and the long-term sequelae of eight children who initially survived. Patients In the acute phase, six had bulbar signs, five had ophthalmologic signs and two had phrenic neuropathy. Three of the five patients with cardiac involvement had cardiomyopathy and died in the acute phase. One patient presented with a complete atrioventricular block. Results In the long-term, one patient, who was in a chronic vegetative state, died after 6 years. Seven children exhibited mental retardation and motor abnormalities, six developed severe epilepsy, two early kyphoscoliosis, and one patient remained with a complete atrioventricular block. Conclusions Infants who survive severe infantile thiamine deficiency have serious residual motor and cognitive sequelae as well as epilepsy.

Breastfeeding has a positive influence on physical and mental development. Attention-deficit/hyperactivity disorder (ADHD) is a common neurobehavioral disorder with major social, familial, and academic influences. The present study aimed to evaluate whether ADHD is associated with a shorter duration of breastfeeding.In this retrospective matched study, children 6-12 years old diagnosed at Schneider's Children Medical Center (Petach Tikva, Israel) with ADHD between 2008 and 2009 were compared with two control groups. The first one consisted of healthy (no ADHD) siblings of ADHD children; the second control group consisted of children without ADHD who consulted at the otolaryngology clinic. A constructed questionnaire about demographic, medical, and perinatal findings, feeding history during the first year of life, and a validated adult ADHD screening questionnaire were given to both parents of every child in each group.In children later diagnosed as having ADHD, 43% were breastfed at 3 months of age compared with 69% in the siblings group and 73% in the control non-related group (p=0.002). By 6 months of age 29% of ADHD children were breastfed compared with 50% in the siblings group and 57% in the control non-related group (p=0.011). A stepwise logistic regression that included the variables found to be significant in univariate analysis demonstrated a significant association between ADHD and lack of breastfeeding at 3 months of age, maternal age at birth, male gender, and parental divorce.Children with ADHD were less likely to breastfeed at 3 months and 6 months of age than children in the two control groups. We speculate that breastfeeding may have a protective effect from developing ADHD later in childhood.

BACKGROUND: CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade. Distinctive phenotypic features are the presence of "kinky" hair and long eyelashes. The genetic basis of the disease has been well established, with over 40 associated mutations identified in the gene GAN, encoding the BTB-KELCH protein gigaxonin, involved in intermediate filament regulation. METHODS: An Illumina Human CytoSNP-12 array followed by whole exome sequence analysis was used to identify the disease associated gene mutation in a large consanguineous family diagnosed with Charcot-Marie-Tooth disease type 2 (CMT-2) from which all but one affected member had straight hair. RESULTS: Here we report the identification of a novel GAN missense mutation underlying the CMT-2 phenotype observed in this family. Although milder forms of GAN, with and without the presence of kinky hair have been reported previously, a phenotype distinct from that was investigated in this study. All family members lacked common features of GAN, including ataxia, nystagmus, intellectual disability, seizures, and central nervous system involvement. CONCLUSIONS: Our findings broaden the spectrum of phenotypes associated with GAN mutations and emphasize a need to proceed with caution when providing families with diagnostic or prognostic information based on either clinical or genetic findings alone.

The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients of Iranian and/or Iraqi Jewish origin. All medical records were reviewed and clinical data, genetic mutations and outcomes were recorded. Forty-five patients with genetic mutations in known CMS genes from 35 families were identified. Mutations in RAPSN were identified in 13 kinships in Israel. The most common mutation was c.-38A>G detected in 8 patients of Iranian and/or Iraqi Jewish origin. Four different recessive mutations in COLQ were identified in 11 kinships, 10 of which were of Muslim-Arab descent. Mutations in CHRNE were identified in 7 kinships. Less commonly detected mutations were in CHRND, CHAT, GFPT1 and DOK7. In conclusion, mutations in RAPSN and COLQ are the most common causes of CMS in our cohort. Specific mutations in COLQ, RAPSN, and CHRNE occur in specific ethnic populations and should be taken into account when the diagnosis of a CMS is suspected.

Human central nervous system (CNS) development is a complex process influenced by genes and environment interactions. Any interference to this orderly pre-planned process may cause variable congenital anomalies of the CNS with severe developmental implications such as learning, attention and intellectual disabilities, autism, psychiatric disturbances, epilepsy, perturbations in activities of daily living, motor and sensory impairment, visual and hearing problems and endocrine disorders.

A group of 34 children and adolescents suspected of having attention-deficit hyperactivity disorder were referred for a computerized evaluation that included sustained attention, working memory, planning, and set-shifting. Although only sustained attention had reasonable specificity, all tests had questionable contribution to the diagnostic evaluation.

Primary microcephaly of postnatal onset is a feature of many neurological disorders, mostly associated with mental retardation, seizures, and spasticity, and it typically carries a grave prognosis. Five infants from four unrelated families of Caucasus Jewish origin presented soon after birth with spasticity, epilepsy, and profound psychomotor retardation. Head circumference percentiles declined, and brain MRI disclosed marked cereberal and cerebellar atrophy with severe myelination defect. A search for a common homozygous region revealed a 2.28 Mb genomic segment on chromosome 11 that encompassed 16 protein-coding genes. A missense mutation in one of them, MED17, segregated with the disease state in the families and was carried by four of 79 anonymous Caucasus Jews. A corresponding mutation in the homologous S.cerevisiae gene SRB4 inactivated the protein, according to complementation assays. Screening of MED17 in additional patients with similar clinical and radiologic findings revealed four more patients, all homozygous for the p.L371P mutation and all originating from Caucasus Jewish families. We conclude that the p. L371P mutation in MED17 is a founder mutation in the Caucasus Jewish community and that homozygosity for this mutation is associated with infantile cerebral and cerebellar atrophy with poor myelination.

OBJECTIVE. We compared performance level and muscle activity patterns during shape copying and tracing in two positions, while sitting at a desk and while standing in front of a wall, between typically developing (TD) preschool children and children with mild disabilities (MD). METHOD. Twenty-two TD children (8 boys, 14 girls; mean [M] age = 5.2 yr, standard deviation [SD] = 0.1) and 13 children with MD (9 boys, 4 girls; M age = 4.9 yr, SD = 0.5) participated in this study. RESULTS. The children performed faster and smoother movements when copying shapes on the vertical surface, with no reduction of accuracy, than on the horizontal surface. Children with MD exerted their upper trapezius while performing the short tasks on the vertical surface compared with their muscle activity on the horizontal surface. CONCLUSION. Incorporating short copying or drawing tasks on a vertical surface may increase the control of proximal muscles and ease graphomotor performance in children with MD.

Syncope affects all age groups and is characterized by a brief sudden loss of consciousness followed by fast recovery. Vasovagal syncope, the most common type, is generally assumed to be due to venous pooling and an abnormal sympathetic response. In approximately 20% of cases, more than one family member is affected. Vasovagal syncope has been documented in a high proportion of patients with migraine. Three generations of a family with comorbid vasovagal syncope and migraine are described. Data were collected from the medical files (index patient and eight siblings) and interviews with the patient's mother. Information was available for 21 family members. Eleven of the 14 family members with a diagnosis of migraine (78%) also had vasovagal syncope, and 11 of the 12 family members with vasovagal syncope (92%) also had migraine. Age at first episode of syncope ranged from 2 to 7 years; age at first migraine headache was less than 10 years in most cases. The high incidence rates combined with the lack of gender predominance may point to a possible common pathophysiology of the two disorders and, perhaps, an autosomal dominant mode of inheritance. Further investigations are needed to corroborate a genetic link.

Background Patient non-attendance is an expensive and persistent problem worldwide with rates between 5–39% reported in the literature. The objective of the study was to assess whether there is a higher incidence of non-attendance in a hospital-based pain clinic during the period of the Jewish High Holidays (Rosh-Hashanah to Sukkot) and whether this is further compounded by other factors, such as demographic characteristics and previous visits to the clinic. Methods Records were taken from the Lowenstein Rehabilitation Hospital appointment scheduling system. Data was gathered from two time-periods: High-Holidays and Control for each year, over a total of 6 years 2008–2013. Non-attendance was analyzed by period, by age, by gender and by previous visits to the clinic. Results In the entire population studied (666 distinct records), the non-attendance rate was higher during the High-Holidays as compared to the Control period (32 vs. 24.1%; p = 0.030). Non-attendance rates were significantly higher during the Holidays among repeating patients (28.6 vs. 14.8%; p = 0.002) and among women (34.6 vs. 20.7%; p = 0.004). Discussion Our data suggest that non-attendance is elevated during the High-Holidays in specific groups of patients, namely, repeating patients and women. Despite no direct inquiry into the reasons for non-attendance, we speculate that the elevated well-being and familial support during the holidays contribute to the patients’ ability to cope with persistent pain and possibly directly reduce the amount of pain, leading to patients missing their pain clinic appointments. Conclusion Our results, provided they can be corroborated by larger-scale studies, can assist in scheduling policy adjustments such as avoidance of appointments during the High-holidays for specific patient populations and more rigorous reminder efforts during these times of the year that may lead to reduction in overall non-attendance rates in the pain clinic. Further, our data provide an impetus for further studies of non-attendance patterns among pain clinic patients, in order to acquire a better understanding of the reasons for non-attendance and develop strategies to reduce it and thus contribute to the continuous improvement of the Israeli health systems as well as others worldwide. Electronic supplementary material The online version of this article (doi:10.1186/s13584-017-0132-9) contains supplementary material, which is available to authorized users.

Objectives To test the hypothesis that the number of publications in the field of physical medicine and rehabilitation (PMR) has increased over the last 16 years in a linear fashion, and to compare the trends in publication between the pediatric and adult literature. Design We evaluated all MEDLINE articles from January 1, 1998, to December 31, 2013, using Medical Subject Headings categories of rehabilitation. An age filter separated adult and pediatric articles. We divided articles into those with a low level of scientific evidence such as letters and editorials, and those with a high level of evidence such as controlled trials and meta-analyses. We used regression analysis to evaluate the effect of the year of publication on the number of publications of each type. Setting Not applicable. Participants Not applicable. Interventions Not applicable. Main Outcome Measures Not applicable. Results MEDLINE reported a total of 98,501 adult publications and 30,895 pediatric publications during the evaluated period. There was a significant linear increase in the total number of publications in adult and pediatric rehabilitation publications with multiplication factors of 3.3 and 2.9, respectively. Importantly, publications with a high level of evidence showed larger multiplication factors compared with those with a low level of evidence (5.5 and 5.1 vs 2.1 and 2.0) for the adult and pediatric literature. Conclusions The number of publications in the PMR field, especially those with a high level of scientific evidence, has increased linearly over the years, reflecting the rapid evolution of both adult and pediatric PMR.

Background Several studies have suggested that high levels of computer use are linked to psychopathology. However, there is ambiguity about what should be considered normal or over-use of computers. Furthermore, the nature of the link between computer usage and psychopathology is controversial. The current study utilized the context of age to address these questions. Our hypothesis was that the context of age will be paramount for differentiating normal from excessive use, and that this context will allow a better understanding of the link to psychopathology. Methods In a cross-sectional study, 185 parents and children aged 3–18 years were recruited in clinical and community settings. They were asked to fill out questionnaires regarding demographics, functional and academic variables, computer use as well as psychiatric screening questionnaires. Using a regression model, we identified 3 groups of normal-use, over-use and under-use and examined known factors as putative differentiators between the over-users and the other groups. Results After modeling computer screen time according to age, factors linked to over-use were: decreased socialization (OR 3.24, Confidence interval [CI] 1.23–8.55, p = 0.018), difficulty to disengage from the computer (OR 1.56, CI 1.07–2.28, p = 0.022) and age, though borderline-significant (OR 1.1 each year, CI 0.99–1.22, p = 0.058). While psychopathology was not linked to over-use, post-hoc analysis revealed that the link between increased computer screen time and psychopathology was age-dependent and solidified as age progressed (p = 0.007). Unlike computer usage, the use of small-screens and smartphones was not associated with psychopathology. Conclusions The results suggest that computer screen time follows an age-based course. We conclude that differentiating normal from over-use as well as defining over-use as a possible marker for psychiatric difficulties must be performed within the context of age. If verified by additional studies, future research should integrate those views in order to better understand the intricacies of computer over-use.

Objective: Our aim was to study the mental health consequences of Israeli adolescents’ 8-day “Holocaust memorial journey” to Poland. Method: A survey to ascertain the experience of Israeli child and adolescent psychiatrists and residents in the specialty was conducted. Participants were asked about referrals regarding the memorial journey, and to compare these cases with referrals for other potentially traumatic events, including school “sleep-out” trips. Results: Fifty child and adolescent psychiatrists and residents participated. According to their collective experience, the adolescents’ memorial journey triggered a variety of mental health problems, including psychosis, but only one case of post-traumatic stress disorder (PTSD). Judging by the number of referrals, there was a higher rate of mental health problems following the memorial journey than after the annual sleep-out school trip. Conclusions: Although it may seldom lead to PTSD, the Holocaust memorial journey can be a major stressor for some participating teenagers. Evaluating “high risk” adolescents prior to their planned exposure to likely stressors and conducting large, prospective studies that examine the impact of pre-planned stressors on the lives of adolescents are warranted. Providing support to all adolescents before, during and after exposure to anticipated stressors is important.

The purpose of this study was to characterize the sleep patterns of children with intrauterine growth retardation, known to be at risk for neurodevelopmental disorders, and seek a possible correlation with behavior, concentration, and attention problems. The sleep patterns of 26 children with intrauterine growth retardation aged 4 to 7 years were compared with those of 47 control children using activity monitors (actigraphs). In addition, data were collected from the parents regarding sleep habits, behavior, concentration, and attention. Children with intrauterine growth retardation aged 4 to 7 years were found to have a tendency toward poorer quality of sleep than their matched controls. This inclination was statistically significant only for one sleep measure, the true sleep time. A tendency toward increased fragmentation of sleep, prolonged waking, and decreased sleep efficiency, although not statistically significant in this study, was demonstrated. Our results showed that 58% of the children with intrauterine growth retardation, compared with 40% of the children in the control group, could be defined as “poor sleepers” (sleep efficiency lower than 90% or three or more waking episodes per night). This disturbed sleep profile is probably an integral part of the neurodevelopmental profile typical of these at-risk children. No significant correlations were found between sleep quality and behavior, concentration, and attention problems. ( J Child Neurol 2002;17:872—876).

Objective Information on the indications, technique, and effectiveness of electroconvulsive therapy (ECT) in adolescent patients is scarce. The recommendations for the use of ECT in this age group are similar to those in adults. This study compares the experience with ECT in the two age groups in the same community psychiatric institution, which adheres to the accepted protocols for diagnosis and treatment. Method The files of 24 consecutive adolescent patients treated in an ECT unit located in the center of Israel in the years 1991–1995 were retrospectively examined, and the findings were compared with those in 33 adult patients who started their ECT course on the same day. The technique for applying ECT was essentially the same in the two age groups. Results ECT was equally effective for adolescents and adults (58% in each group achieved remission). The main difference was the diagnosis for which patients were referred: most of the adolescents were in the “psychotic spectrum,” whereas most of the adults were in the “affective spectrum.” Conclusions The findings support the current medical recommendations for the use of ECT in adolescents. Possible explanations for the differences in diagnosis between the two age groups are discussed.

Objective: We hypothesized that patients with ADHD were typified by distress more than by functional difficulties. Thus, a decline in state anxiety while performing a cognitive task when taking methylphenidate would discriminate between ADHD patients and controls. Method: State anxiety and cognitive performance on a continuous performance test were assessed in ADHD patients and controls with and without taking methylphenidate. Results: State anxiety and cognitive performance improved from baseline in 36 ADHD adults after taking methylphenidate. In 25 controls, cognitive performance improved, but state anxiety did not abate after a recess. In two additional studies, 5 controls were evaluated at baseline and after receiving methylphenidate, and showed improvement in cognitive assessment but not in state anxiety. Five ADHD adults were assessed at baseline and after a recess, and showed no improvement. Conclusion: Our results support the hypothesis that adult ADHD patients are characterized by distress and the relief of this distress under effective therapy as expressed by a decline in state anxiety while they perform a cognitive task.

Background Hypomyelination and congenital cataract (HCC) is a rare autosomal recessive white matter disorder characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system, caused by mutations in the FAM126A gene. Aims To report three patients of two unrelated families segregating novel mutations. Methods clinical, neurophysiological, neuroradiologic and molecular investigations were carried out. Results All patients show bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy. The clinical phenotype is consistent with the severe form of HCC. Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities. Conclusions this study describes three additional HCC patients indicating that this recently defined leukoencephalopathy should be included in the differential diagnosis of hypomyelination in childhood. The peculiar clinical and neuroradiologic findings are useful to properly address molecular investigations and allow the differential diagnosis between HCC and other hypomyelinating forms.

International audience; Together with GTP and initiator methionyl-tRNA, translation initiation factor eIF2 forms a ternary complex that binds the 40S ribosome and then scans an mRNA to select the AUG start codon for protein synthesis. Here, we show that a human X-chromosomal neurological disorder characterized by intellectual disability and microcephaly is caused by a missense mutation in eIF2g (encoded by EIF2S3), the core subunit of the heterotrimeric eIF2 complex. Biochemical studies of human cells overexpressing the eIF2g mutant and of yeast eIF2g with the analogous mutation revealed a defect in binding the eIF2b subunit to eIF2g. Consistent with this loss of eIF2 integrity, the yeast eIF2g mutation impaired translation start codon selection and eIF2 function in vivo in a manner that was suppressed by overexpressing eIF2b. These findings directly link intellectual disability to impaired translation initiation, and provide a mechanistic basis for the human disease due to partial loss of eIF2 function.

A female, 10 years of age, with hereditary multiple exostoses presented with shoulder drop and asymmetry. The results of neurologic examination were normal and winging was not accentuated by active maneuvers of the shoulder. Scapular exostosis was demonstrated to be the structural cause of scapular winging. Only a few cases of children with scapular winging caused by scapular tumors have been reported. However, tumors of the scapula should be excluded in children with static winging of the scapula.

In this study, we describe the neurodevelopmental and epileptic phenotypes in a family with an inherited 1q21.1 deletion. During the pregnancy with the proband, increased nuchal translucency and oligohydramnion were detected. The proband showed mild global developmental delay and ataxic gait. Seizures started in the proband at the age of 2 years and manifested as generalized tonic—clonic seizures, atypical absence seizures, head drops, and drop attacks with no abnormal findings on interictal electroencephalogram. We performed an Agilent Human Genome CGH (comparative genomic hybridization) Microarray 105A, and a microdeletion on chromosome 1q21.1 was identified in both the patient and his asymptomatic father. This deletion encompasses 1.65 Mb and is larger than the reported recurrent class I deletions in this region. Cryptic cytogenetic abnormalities should be considered in patients with neurodevelopmental problems and atypical presentation of epilepsy with a normal electroencephalography (EEG).

The spectrum of the possible manifestations of Langerhans’ cell histiocytosis in children is very wide, ranging from a simple rash to major multiorgan disease. There may be hypothalamic and pituitary dysfunction or more global neurological and neuropsychiatric manifestations when the central nervous system is affected. The cerebellum is preferentially affected for yet undetermined reasons. The clinical presentation includes motor dysfunction as well as cognitive, behavioral, and psychiatric expression of the ongoing neurodegeneration. We report a young patient with Langerhans’ cell histiocytosis who underwent an unusual course of psychiatric deterioration.

The neuronal ceroid lipofuscinoses are a group of dominant neurodegenerative, progressive, and fatal disorders characterized clinically by myoclonic epilepsy, in variable association with dementia, ataxia, and visual loss. Neuronal ceroid lipofuscinoses were classified into several phenotypes according to their age of onset: infantile, late infantile, juvenile, and adult. A specific phenotype was named "northern epilepsy," and its onset of signs occurs between ages 5-10 years. Deficiencies in the lysosomal activity of two specific enzymes were found in several types of neuronal ceroid lipofuscinosis: palmitoyl-protein thioesterase 1, encoded by the CLN1 gene, and tripeptidyl-peptidase 1, encoded by the CLN2 gene. Several mutations in CLN2 were described previously. We describe a novel mutation in two siblings of Israeli-Arab origin, with a clinical picture compatible with late infantile neuronal ceroid lipofuscinosis. Both siblings were found to be homozygous for a deletion of a C nucleotide at position 775 in exon 7 of the CLN2 gene. These findings have implications for the worldwide epidemiology of neuronal ceroid lipofuscinosis.

Objective Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders associated with distinctive clinical, electrophysiological and genetic abnormalities. Mutations in various genes of the neuromuscular junction may cause presynaptic, synaptic or postsynaptic defects. In this study, the genetic and clinical characteristics of Israeli patients with CMS were evaluated. Methods Twentysix patients with CMS from 16 independent families in whom genetic mutation was detected were diagnosed in two Israeli medical centers. Genetic evaluation was initially performed depending on patients' clinical symptoms and known CMS genes were sequenced. Patients of Jewish Iranian or Iraqi ethnic origin were screened directly for a known 38 A-G mutation in RAPSYN. In two patients, whole exome sequencing was analyzed. All patients' medical records were reviewed and their clinical data, electrophysiological studies and outcome were recorded. Results The diagnosis of CMS was confirmed in 26 patients of 16 families. Among these patients, 8 patients of 4 families had recessive mutations in COLQ, eight patients of 5 families, mutations in CHRNE, and eight patients of 5 families, mutations in RAPSN. CHRND was diagnosed in 2 patients from one family. The mean age of onset of clinical symptoms was 6 months. Ptosis, ophthalmoplegia and feeding problems were the most common symptoms. Conclusions RAPSYN and CHRNE are the most common causes of CMS in our cohort. The second most common cause is COLQ. Specific mutations in RAPSYN, CHRNE and COLQ are detected in unique ethnic populations in Israel.

Biological and environmental factors have been related to the persistence of psychopathology in preschool children. The objective of the study was to identify the factors predicting the clinical outcome in preschool inpatients with emotional and behavioral disorders.Twenty-eight children aged 3 to 6.5 years attending a therapeutic nursery were evaluated. Clinical data were collected from the children's charts, including: biological parameters, developmental milestones, intelligence level, socioeconomic status, and stressful life events. Severity of symptoms at follow-up was assessed using the Clinical Global Impression Scale.Low socioeconomic status, excess stressful life events, and female gender were associated with poor clinical outcome. Biological factors such as pregnancy and birth complications and genetic factors were not significant predictors.The study was limited by its retrospective design and small sample size.More effort in social interventions and supportive family therapy may improve the outcome of young children with emotional and behavioral problems.

Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally due to developmental defects leading to absent, ectopic or hypoplastic thyroid gland. Although commonly regarded as sporadic disease, nonsyndromic thyroid hypoplasia has, in rare cases, been attributed to inherited defects in PAX8 and the TSHR gene. The shared clinical picture caused by these defects is a variable degree of thyrotropin resistance (RTSH [MIM 275200]), accompanied in its severe form by thyroid gland hypoplasia. We recently identified six extended kindreds with autosomal dominant RTSH, only one of which was linked to a mutation in the PAX8 candidate gene. Genome wide scans conducted in two of the remaining five families revealed independently significant linkage to chromosome 15q25.3-26.1, with maximum multipoint LOD scores of 8.51 and 4.31. Linkage to this novel locus was replicated (P

CONTEXT: Resistance to TSH (RTSH) is an inherited disorder of variable hyposensitivity to TSH. The metabolic consequences can range from euthyroid hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia. Although subclinical and mild hypothyroidism fitting the RTSH phenotype is common in the population, the role of genetic factors is far from being understood. Only in rare cases has RTSH been attributed to TSHR or PAX8 gene mutations. OBJECTIVE, SETTING, AND PARTICIPANTS: Toward the identification of novel RTSH genes, we studied five large, unrelated families comprising 102 individuals, 56 of whom were affected. RESULTS: Inheritance of RTSH in these families followed an autosomal dominant pattern without evidence for incomplete penetrance, yet expressivity was variable. Considering only fully phenotyped generations, 64% of the progeny was affected, with a 1:1.4 male-to-female ratio. Of 18 affected individuals tested in the neonatal period, two were undetected because of borderline results. The thyroid phenotype was indistinguishable from that observed with PAX8 and TSHR defects. In four families, untreated affected subjects of all ages had elevated serum thyroglobulin levels, consistent with a defect in the thyroid follicle cells. Linkage of RTSH to TSHR and PAX8 was excluded in all five families. For the largest families, we likewise excluded a contribution of genes previously only associated with syndromic forms of RTSH, namely TITF1, GNAS, and FOXE1. CONCLUSIONS: These kindreds represent a distinct etiological entity of autosomal dominant RTSH. According to the clinical presentation of these families, genetic causes of mild hyperthyrotropinemia in the general population may be more common than currently appreciated.

Pyridostigmine bromide, a reversible inhibitor of acetylcholinesterase (AChE), is effectively used as a pre-treatment to organophosphate intoxication. Previous studies have shown that an oral dose of 30 mg twice a day produces a sufficient inhibition of the enzyme activity (20-40%) without causing any significant adverse effect. During the Persian Gulf war pyridostigmine was taken for the first time under a chemical warfare threat. We searched for symptoms and complaints that may be related to the medication. Our survey included 213 soldiers who completed a questionnaire regarding possible symptoms and their severity. AChE inhibition level was compared between groups of soldiers with and without complaints. The most frequent symptoms were nonspecific and included dry mouth, general malaise, fatigue and weakness. Typical effects, such as nausea, abdominal pain, frequent urination and rhinorrhea, were infrequent. The severity of the symptoms was generally mild. The symptoms appeared around 1.6 h after taking the medication and recurred after each intake. No correlation was found between levels of cholinesterase and type or severity of complaints. Anxiety, which accompanies wartime, may have contributed to the appearance of significant symptoms. Further investigations concerning the effects of pyridostigmine ingestion under stressful conditions are warranted.