Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. Heterozygous females are affected while hemizygous males are spared, this unusual mode of inheritance being probably due to a mechanism called cellular interference. To extend the mutational and clinical spectra associated with PCDH19, we screened 150 unrelated patients (113 females) with febrile and afebrile seizures for mutations or rearrangements in the gene. Fifteen novel point mutations were identified in 15 female patients (6 sporadic and 9 familial cases). In addition, qPCR revealed two whole gene deletions and one partial deletion in 3 sporadic female patients. Clinical features were highly variable but included almost constantly a high sensitivity to fever and clusters of brief seizures. Interestingly, cognitive functions were normal in several family members of 2 families: the familial condition in family 1 was suggestive of Generalized Epilepsy with Febrile Seizures Plus (GEFS+) whereas all three affected females had partial cryptogenic epilepsy. These results show that mutations in PCDH19 are a relatively frequent cause of epilepsy in females and should be considered even in absence of family history and/or mental retardation. © 2010 Wiley-Liss, Inc.

Exposure to HPV vaccines was not associated with an increased risk of ADs within the time period studied. Results were robust to case definitions and time windows of exposure. Continued active surveillance is needed to confirm this finding for individual ADs.

ObjectivesTo assess the health-related quality of life (HRQOL) of children with specific language impairment (SLI).Study DesignIn a prospective sample at a Learning Disabilities Reference Center, proxy-rated HRQOL (KIDSCREEN-27) was assessed for children with SLI and unaffected children from January 1, 2014 to March 31, 2015. Quality of life predictors for children with SLI were evaluated by recording the length and number of speech therapy and psychotherapy sessions and the specific school organization that the children had participated in. The KIDSCREEN scores of the two groups were compared using nonparametric statistics.ResultsThe questionnaires were completed by the parents of 67 children with SLI and 67 unaffected children. For children with SLI, the mean HRQOL scores were significantly lower for physical and psychological well-being, autonomy and parent relation, social support, and school environment compared to the reference group, controlling for age and parental education (β = -6.7 (-12.7;-.7) P = 0.03, β = -4.9 (-9.5;-.3) P = 0.04, β = -8.4 (-14.2;-2.6) P = 0.005, β = -11.6 (-19.5;-3.7) P = 0.004, β = -7.1(-12.4;-1.7) P = 0.010, respectively). Multivariate analyses in the group of children with SLI found that children who had undergone psychotherapy sessions or who had been enrolled in specific schooling programs had reduced HRQOL scores in social support and school environment and that children who were in a special class had higher scores in physical well-being.ConclusionChildren with SLI had significantly lower HRQOL scores as compared to unaffected children. Measurement of HRQOL could serve as one of the strategies employed throughout the follow-up of these individuals to provide them with the most appropriate and comprehensive care possible.

This study aimed at examining motor and ideomotor praxis skills in children with neurofibromatosis type 1 (NF1). The impact of executive dysfunction, frequently described in children with NF1, on the expression of praxis impairments was also studied. Eighteen children with NF1 were included and matched with 20 control children for age (7-14 years), sex, laterality, and parental education level. Both groups of children underwent an assessment based on cognitive models of apraxia including visuomotor tasks, executive tests, and everyday life questionnaires. The group of children with NF1 showed a trend to weaker performances on motor and ideomotor praxis than the control group, only on the finger use condition (ps < .05; with a moderate to large effect size), but not regarding manual use condition (ps > .08). Moreover, these praxis difficulties disappeared when executive dysfunctions (planning and inhibition) were controlled. These findings support the negative impact of executive dysfunctions on praxis skills in children with NF1. The identification of praxis and executive function disorders as well as their interaction is important for differentiating primary praxic disorder from a cognitive deficit that may be expressed in gesture. Clinically, this distinction is essential to optimize targeted and effective rehabilitative interventions.