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Objective Participation in everyday activities has a positive influence upon health and well-being and is considered as an outcome measure. According to recent models child participation is the product of the dynamic interaction between health states and both individual and environmental factors. Children with mild developmental disabilities often present decreased participation in everyday activities. The purpose of this study was to explore the extent to which individual and environmental factors explain the participation of young children, with and without mild motor disabilities. Methods The study population included 58 kindergarten children together with their parents (29 children with mild motor disabilities who were referred to occupational therapy and 29 children without motor disabilities). Both groups of children were matched for: age; gender; age of parents; and socio-economic status (SES). We assessed participation using the Child Participation Questionnaire (intensity, diversity, independence, child enjoyment and parental satisfaction) and we assessed children's self-efficacy and motor abilities for individual factors. Parental self-efficacy and SES were collected by questionnaires. Results Participation diversity (number of activities) was predicted by child and mother self-efficacy and by SES. Child independence and enjoyment as well as parental satisfaction were predicted by child motor ability but mainly by maternal self-efficacy. Results suggest that the total explained variance is more than double when the environmental variables (parental self-efficacy and SES) are inserted to the participation model. Conclusions Maternal self-efficacy and SES serve as facilitators to increased participation and well-being of children with mild motor disabilities. [ABSTRACT FROM AUTHOR]

Background: Recent reports showed that children born with intrauterine growth restriction (IUGR) are at greater risk of experiencing verbal short-term memory span (STM) deficits that may impede their learning capacities at school. It is still unknown whether these deficits are modality dependent. Methods: This long-term, prospective design study examined modality-dependent verbal STM functions in children who were diagnosed at birth with IUGR ( n = 138) and a control group ( n = 64). Their STM skills were evaluated individually at 9 years of age with four conditions of the Visual–Aural Digit Span Test (VADS; Koppitz, 1981 ): auditory–oral, auditory–written, visuospatial–oral and visuospatial–written. Cognitive competence was evaluated with the short form of the Wechsler Intelligence Scales for Children – revised (WISC-R95; Wechsler, 1998 ). Results: We found IUGR-related specific auditory-oral STM deficits ( p < .036) in conjunction with two double dissociations: an auditory-visuospatial ( p < .014) and an input–output processing distinction ( p < .014). Cognitive competence had a significant effect on all four conditions; however, the effect of IUGR on the auditory-oral condition was not overridden by the effect of intelligence quotient (IQ). Conclusions: Intrauterine growth restriction affects global competence and inter-modality processing, as well as distinct auditory input processing related to verbal STM functions. The findings support a long-term relationship between prenatal aberrant head growth and auditory verbal STM deficits by the end of the first decade of life. Empirical, clinical and educational implications are presented. [ABSTRACT FROM AUTHOR]

Five young children developed slowly progressive hemiparesis as the initial manifestation of Rasmussen encephalitis (RE). Three have remained seizure free over an observational period of 1.3–1.9 years. In the remaining two patients, seizures occurred after 0.5 and 0.6 years respectively. We suggest that RE might be presently underdiagnosed and should be suspected in cases of new onset hemiparesis. In this series, three out of five patients showed oligoclonal bands on examination of cerebrospinal fluid (CSF) which represented additional diagnostic hints towards an immune-mediated condition. According to recently published formal diagnostic criteria, evidence of progressive cerebral hemiatrophy or bioptic identification of RE-typical inflammation confirms the diagnosis in such cases. Long-term immunotherapy is recommended in order to prevent further tissue loss and functional decline. [ABSTRACT FROM AUTHOR]

This study examines long-term effects of antenatal management of intrauterine growth restriction (IUGR) on developmental outcome and on maternal coping using a prospective cross-sectional design. Sixty-nine families were evaluated using psychological testing and risk questionnaires. The effects of timing of diagnosis (prenatal/perinatal) and of pregnancy management [induction of labor (IL)/conservative management (CM)/none, i.e., diagnosed-at-birth (DaB)] on maternal stress were tested at 6 years' postbirth. In general, prenatal management protocols of IUGR were efficient in preventing major disabilities; however, 49% of the variance in maternal stress at 6 years' postbirth could be attributed to the child's presenting behavior and to pregnancy management of IUGR condition. Mothers who received CM treatment reported being more stressed by their child's poor emotional adjustment (ps < .01–.002) and distractibility (p < .029), and to have more difficulty in accepting them (p < .01). Prenatal psychological consultation to better handle stress for parents whose fetus is diagnosed with IUGR is recommended, particularly when pregnancy is managed conservatively and familial–educational resources are low. [ABSTRACT FROM AUTHOR]

Eight mutations in the ALS2 gene have been described as causing autosomal-recessive juvenile-onset forms of the motor neuron diseases amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. All mutations are small deletions that are predicted to result in a frameshift and premature truncation of the alsin protein. Here we describe a ninth ALS2 mutation, in two siblings affected by infantile-onset ascending spastic paraplegia with bulbar involvement. This mutation is predicted to result in the substitution of an amino acid by a stop codon, and thus is the first nonsense mutation detected in this gene. It is probable that full-length alsin is required for the proper development and/or functioning of upper motor neurons. [ABSTRACT FROM AUTHOR]

We retrospectively collected data from the OB-GYN US & Pediatric Radiology units, of fetuses, referred between 2000-2017 due to suspected central nervous system (CNS), posterior fossa (PF) & vermian anomalies. Of 447 fetuses with suspected PF anomalies diagnosed by neuro-US and/or MRI, 77 were considered isolated; 27 patients underwent termination of pregnancy (TOP) and 15 were lost to follow up. Twenty-six were diagnosed as having Blake's pouch cysts (BPC) (n = 24) or arachnoid cysts (n = 2), (Group I); the remaining nine had an isolated anomaly involving the vermis (IVA) (Group II). [Extracted from the article]