Motor development of children with attention deficit hyperactivity disorder

Objective: To compare both global and specific domains of motor development of children with attention deficit hyperactivity disorder (ADHD) with that of typically developing children. Methods: Two hundred children (50 children with clinical diagnoses of ADHD, according to the DSM-IV-TR and 150 typically developing controls), aged 5 to 10 years, participated in this crosssectional study. The Motor Development Scale was used to assess fine and global motricity, balance, body schema, and spatial and temporal organization. Results: Between-group testing revealed statistically significant differences between the ADHD and control groups for all domains. The results also revealed a deficit of nearly two years in the motor development of children with ADHD compared with the normative sample. Conclusion: The current study shows that ADHD is associated with a delay in motor development when compared to typically developing children. The results also suggested difficulties in certain motor areas for those with ADHD. These results may point to plausible mechanisms underlying the relationship between ADHD and motor difficulties

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel

10.1371/journal.pone.0093409PLoS ONE94-POLN

Is there an association between maternal carbamazepine use during pregnancy and eye malformations in the child?

Purpose: To check for an association between carbamazepme (CBZ) use by the mother during pregnancy and congenital eye malformations (i.e., anophthalmia, microphthalmia, and coloboma) in the child, as suggested by Sutcliffe et al. (1998), who reported four cases. Methods: We checked all the cases with these eye malformations for CBZ use by the mother in the EUROCAT Northern Netherlands dataset. which registers infants with congenital malformations and records possible teratogenic exposures (including medication taken by the mother). We also reviewed 13 studies in the literature. Results: The EUROCAT dataset recorded 77 cases of anophthalmia, microphthalmia, or coloboma, but none with prenatal exposure to CBZ. Prenatal CBZ exposure was recorded in seven other cases without congenital eye malformation. Large studies in the literature on the teratogenic effects of CBZ (and other antiepileptic drugs), including data from the MADRE database, revealed no association between these congenital eye malformations and prenatal CBZ exposure. One case reported bilateral anophthalmia and other congenital anomalies after prenatal exposure to CBZ in combination with vigabatrin and dexamethasone. Conclusions: Our data do not support Sutcliffe's suggestion that prenatal CBZ exposure may result in congenital eye malformations. However, despite the large population represented, both the low birth prevalence of these congenital eye malformations and the low prevalence of CBZ exposure during pregnancy make it difficult to exclude an increased relative risk. The many large prospective and retrospective studies in the literature seem to agree with our findings, although there is still uncertainty about the teratogenic effect of CBZ in polytherapy

Ehlers-Danlos syndrome type IV:unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephaly and, in the son, an esophageal atresia and hydrocephaly. Protein analysis of collagen III in cultured fibroblasts of the mother showed no abnormalities. However, DNA analysis of the COL3A1 gene revealed a pathogenic mutation (388G-->T) in both the mother and the son. The possible relationship between the observed congenital anomalies and EDS IV are discussed. We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis

ANOTHER PATIENT WITH AN INTERSTITIAL DELETION OF CHROMOSOME-9 - CASE-REPORT AND A REVIEW OF 6 CASES WITH DEL(9)(Q22Q32)

We report a case of del(9)(q22q32) in a severely mentally retarded boy. The most prominent clinical features are short stature, microcephaly, dysmorphic facies, and delayed bone age. Although six cases of this deletion have now been reported, confirmation of a definite syndrome is not yet possible