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Aim: To assess the predictive validity of parent‐reported gross motor impairment (GMI) at age 2 years to detect significant movement difficulties at age 5 years in children born extremely preterm. Method: Data were from 556 children (270 males, 286 females) born at less than 28 weeks' gestation in 2011 to 2012 in 10 European countries. Parent report of moderate/severe GMI was defined as walking unsteadily or unable to walk unassisted at 2 years corrected age. Examiners assessed significant movement difficulties (score ≤ 5th centile on the Movement Assessment Battery for Children, Second Edition) and diagnoses of cerebral palsy (CP) were collected by parent report at 5 years chronological age. Results: At 2 years, 66 (11.9%) children had moderate/severe GMI. At 5 years, 212 (38.1%) had significant movement difficulties. Parent reports of GMI at age 2 years accurately classified CP at age 5 years in 91.0% to 93.2% of children. Classification of moderate/severe GMI at age 2 years had high specificity (96.2%; 95% confidence interval 93.6–98.0) and positive predictive value (80.3%; 68.7–89.1) for significant movement difficulties at age 5 years. However, 74.5% of children with significant movement difficulties at 5 years were not identified with moderate/severe GMI at age 2 years, resulting in low sensitivity (25.1%; 19.4–31.5). Interpretation: This questionnaire may be used to identify children born extremely preterm who at age 2 years have a diagnosis of CP or movement difficulties that are likely to have a significant impact on their functional outcomes at age 5 years. [ABSTRACT FROM AUTHOR]

Aim: To (1) determine the proportion of 5‐year‐old children born extremely preterm (EPT) with movement difficulties including cerebral palsy (CP) and the proportion of these children receiving motor‐related health care (MRHC), and (2) describe factors associated with receiving MRHC. Method: Children born before 28 weeks' gestation in 2011 to 2012 in 11 European countries were assessed with the Movement Assessment Battery for Children, Second Edition (MABC‐2) at 5 years of age. Information on family characteristics, child health including CP diagnosis, and health care use were collected using parent‐report questionnaires. MRHC was defined as visits in the previous year with health care providers (physical and occupational therapists) specialized in assessing/treating motor problems. We analysed receipt of MRHC and associated factors among children at risk of movement difficulties (MABC‐2 score 6th–15th centiles), with significant movement difficulties (SMD; ≤5th centile) or with CP. Results: Of 807 children assessed at 5 years 7 months (SD 4 months; 4 years 7 months–7 years 1 month), 412 were males (51.1%), 170 (21.1%) were at risk of movement difficulties, 201 (24.9%) had SMD, and 92 (11.4%) had CP. Those who received MRHC comprised 89.1% of children with CP, 42.8% with SMD, and 25.9% at risk of movement difficulties. MRHC for children with SMD varied from 23.3% to 66.7% between countries. Children were more likely to receive MRHC if they had other developmental problems or socioemotional, conduct, or attention difficulties. Interpretation: Efforts are needed to increase MRHC for 5‐year‐old children born EPT with movement difficulties. What this paper adds: Children born extremely preterm without cerebral palsy frequently experienced motor difficulties.Most of these children were not receiving motor‐related health care (MRHC).Large geographical differences throughout Europe were observed in receipt of MRHC.Socioemotional problems were related to MRHC use. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to examine the reliability and validity of the Dyskinesia Impairment Scale (DIS). The DIS consists of two subscales: dystonia and choreoathetosis. It measures both phenomena in dyskinetic cerebral palsy (CP).Method: Twenty-five participants with dyskinetic CP (17 males; eight females; age range 5–22y; mean age 13y 6mo; SD 5y 4mo), recruited from special schools for children with motor disorders, were included. Exclusion criteria were changes in muscle relaxant medication within the previous 3 months, orthopaedic or neurosurgical interventions within the previous year, and spinal fusion. Interrater reliability was verified by two independent raters. For interrater reliability, intraclass correlation coefficients were assessed. Standard error of measurement, the minimal detectable difference, and Cronbach’s alpha for internal consistency were determined. For concurrent validity of the DIS dystonia subscale, the Barry–Albright Dystonia Scale was administered.Results: The intraclass correlation coefficient for the total DIS score and the two subscales ranged between 0.91 and 0.98 for interrater reliability. The reliability of the choreoathetosis subscale was found to be higher than that of the dystonia subscale. The standard error of the measurement and minimal detectable difference values were adequate. Cronbach’s alpha values ranged from 0.89 to 0.93. Pearson’s correlation between the dystonia subscale and Barry–Albright Dystonia Scale was 0.84 (p<0.001).Interpretation: Good to excellent reliability and validity were found for the DIS. The DIS may be promising for increasing insights into the natural history of dyskinetic CP and evaluating interventions. Future research on the responsiveness of the DIS is warranted. [ABSTRACT FROM AUTHOR]

Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, dalla Bernardina B, Zuffardi O, Van Esch H. Refining the phenotype associated with MEF2C haploinsufficiency. Recently, submicroscopic deletions of the 5q14.3 region have been described in patients with severe mental retardation (MR), stereotypic movements, epilepsy and cerebral malformations. Further delineation of a critical region of overlap in these patients pointed to MEF2C as the responsible gene. This finding was further reinforced by the identification of a nonsense mutation in a patient with a similar phenotype. In brain, MEF2C is essential for early neurogenesis, neuronal migration and differentiation. Here we present two additional patients with severe MR, autism spectrum disorder and epilepsy, carrying a very small deletion encompassing the MEF2C gene. This finding strengthens the role of this gene in severe MR, and enables further delineation of the clinical phenotype. [ABSTRACT FROM AUTHOR]

Aim This study investigated the reliability and validity of the Barry–Albright Dystonia Scale (BADS), the Burke–Fahn–Marsden Movement Scale (BFMMS), and the Unified Dystonia Rating Scale (UDRS) in patients with bilateral dystonic cerebral palsy (CP). Method Three raters independently scored videotapes of 10 patients (five males, five females; mean age 13y 3mo, SD 5y 2mo, range 5–22y). One patient each was classified at levels I–IV in the Gross Motor Function Classification System and six patients were classified at level V. Reliability was measured by (1) intraclass correlation coefficient (ICC) for interrater reliability, (2) standard error of measurement (SEM) and smallest detectable difference (SDD), and (3) Cronbach’s alpha for internal consistency. Validity was assessed by Pearson’s correlations among the three scales used and by content analysis. Results Moderate to good interrater reliability was found for total scores of the three scales (ICC: BADS=0.87; BFMMS=0.86; UDRS=0.79). However, many subitems showed low reliability, in particular for the UDRS. SEM and SDD were respectively 6.36% and 17.72% for the BADS, 9.88% and 27.39% for the BFMMS, and 8.89% and 24.63% for the UDRS. High internal consistency was found. Pearson’s correlations were high. Content validity showed insufficient accordance with the new CP definition and classification. Interpretation Our results support the internal consistency and concurrent validity of the scales; however, taking into consideration the limitations in reliability, including the large SDD values and the content validity, further research on methods of assessment of dystonia is warranted. [ABSTRACT FROM AUTHOR]

In this article we describe visual perceptual abilities of a clinical population, referred for visual problems to our multidisciplinary team and assessed with the five computer tasks from the L94 visual perceptual battery. Clinical and neuroimaging findings were correlated with the findings on this task battery. Seventy children (35 males, 35 females) constituted our cohort. Age ranged from 4 to 20 years (mean 7y [SD 3y]). Forty children were born before 37 weeks gestational age. Thirty-six children had cerebral palsy (CP), of whom 24 had spastic diplegia, five had spastic hemiplegia, and four had spastic quadriplegia. Three children had ataxic CP. Perceptual visual impairment (PVI) was established in comparison to the performance age obtained on non-verbal intelligence subtests, instead of chronological age. Our results suggest that children with a history of preterm birth and a clinical CP picture are most at risk for a specific PVI. Correlations among other clinical variables did not define a clinical subgroup more at risk. Children with periventricular leucomalacia were almost equally represented in both PVI and non-PVI groups. Normal magnetic resonance imaging did not exclude the presence of PVI. In these children, however, we found another impairment profile, more in favour of dorsal stream impairment. [ABSTRACT FROM AUTHOR]

This study evaluated the effects of multilevel botulinum toxin type A (BTX-A) treatments on the gait pattern of children with spastic cerebral palsy (Gross Motor Function Classification System Levels I-III). In this nested case-control design, 30 children (mean age 6y 11mo [SD 1y 5mo]; 21 males, nine females; 19 with hemiplegia, 11 with diplegia) were treated according to best practice guidelines in paediatric orthopaedics, including BTX-A injections. A matched control group of 30 children (mean age 7y 8mo [SD 1y 10mo]; 13 males, 17 females; 19 with hemiplegia, 11 with diplegia) were treated identically, but without BTX-A. Motor development status at 5 to 10 years of age was assessed by means of three-dimensional gait analysis at a mean time of 1 year 10 months (SD 10mo) after the last BTX-A treatment. The control group showed a significantly more pronounced pathological gait pattern than the BTX-A group. Major differences were found for pelvic anterior tilt, maximum hip and knee extension, and internal hip rotation. These results provide evidence for a prolonged effect of BTX-A and suggest that BTX-A injections, in combination with common conservative treatment options, result in a gait pattern that is less defined by secondary problems (e.g. bony deformities) at 5 to 10 years of age, minimizing the need for complex surgery at a later age and enhancing quality of life. [ABSTRACT FROM AUTHOR]

An abstract of the article "Outcome of hydropic Parvo-B19 infected fetuses referred for intrauterine transfusion (IUT)," by L. De Catte and colleagues is presented.

Deletions in chromosome 14q22-23 have been associated with variable manifestations including malformations of the eye, limbs, palate, and brain, and with developmental and growth delay. Haploinsufficiency of BMP4, OTX2 and possibly SIX6 are thought to contribute to the phenotype. We present a three generation family with four individuals carrying a 2.79 Mb microdeletion 14q22.1-22.2 encompassing BMP4 but not OTX2 nor SIX6. The highly variable manifestations in this family range from multiple congenital malformations with Robin sequence, microphthalmia, postaxial polydactyly, and developmental delay in the index patient to cleft uvula, growth delay, and mild developmental delay in her sister. The adults have a normal intelligence, postaxial polydactyly, and short stature or early cataract. Genotype-phenotype correlations suggest that the severity of eye manifestations in 14q22 deletions are influenced by the size of the deletion, but the marked intrafamilial variability observed in this family, as well as in familial BMP4 or OTX2 intragenic mutations points to additional modifiers outside this region., (Copyright © 2012 Wiley Periodicals, Inc.)