Search results for "developmental neuroscience"
showing 10 items of 360 documents
Infantile neuroaxonal dystrophy: Diagnosis by skin biopsy
1991
A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have infantile neuroaxonal dystrophy (INAD). Beyond the age of two years, the EEG also entails characteristic findings. Diagnosis may be obtained by an ultrastructural examination of biopsied skin. The respective clinical and morphological findings are recorded and illustrated from four patients in this report.
Thalamic hyperdensity — is it a diagnostic marker for Sandhoff disease?
1993
Sandhoff disease, also known as GM2-gangliosidoses variant 0, is caused by the deficient activity of both hexosaminidase A and hexosaminidase B. We report a 15-month-old boy diagnosed with Sandhoff disease by demonstrating the enzyme deficiency. The interesting finding was bilateral thalamic hyperdensity on the CT scan. The hyperdensity in all previously published cases was homogeneous and symmetric and limited to the thalamus; the cause still remains unknown. We suggest that the finding of dense thalami may be useful as a specific diagnostic criterion for the GM2-gangliosidoses and especially for Sandhoff disease.
Neurocognitive functioning in children with type-1 diabetes with and without episodes of severe hypoglycaemia
2007
Previous studies have shown that recurrent severe hypoglycaemia can cause long-term cognitive impairment in children with type-1 diabetes, but the results are controversial, possibly due to the heterogeneity of samples and lack of comprehensive neuropsychological assessments of children. The aim of this study was to assess the effects of diabetes and severe hypoglycaemia on the neurocognitive functioning of children with a standardized, wide age-range neuropsychological test battery designed for the assessment of children. Eleven children with diabetes and a history of severe hypoglycaemia, 10 children with diabetes without a history of severe hypoglycaemia, and 10 healthy control children …
Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome
2003
Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome of idiopathic generalized epilepsies with onset below 3 years of age. It has been reported that BMEI is associated with a good prognosis, however, recently some studies suggest less favourable neuropsychological outcome. We report a long-term follow-up of seven patients with BMEI. Seizure outcome and neuropsychological, cognitive, and behavioural evolution were discussed for each of them. At the end of follow-up, 86% of children showed neuropsychological and intellectual disorders: two children had mental retardation, three patients achieved a borderline IQ and one normal but low IQ. All but one displayed neuropsychological disa…
Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.
2014
Aim: The aim of this study was to assess the diagnostic approach to microcephaly in childhood and to identify the prevalence of the various underlying causes/disease entities. Method: We conducted a retrospective study on a cohort of 680 children with microcephaly (399 males, 281 females; mean age at presentation 7-8mo, range 1mo-5y) from patients presenting to Charité - University Medicine Berlin (n=474) and University Hospital Dresden (n=206). Patient discharge letters were searched electronically to identify cases of microcephaly, and then the medical records of these patients were used to analyze parameters for distribution. Results: The putative aetiology for microcephaly was ascertain…
Co-occurrence of developmental delays in a screening study of 4-year-old Finnish children
2004
The aim of this population study was to examine the severity and prevalence of co-occurring developmental delays in 4-year-old children, the rate of overlapping problems, and sex differences. A sample of 434 children (196 males, 238 females; mean age 4 years 3 months, SD 1 month) were administered the 'Lene' test: a comprehensive neurodevelopmental screening test. Results suggest that co-occurrence of attention-behavioural, motor-perceptual, and language delays occurring in school-aged children could already be detected at the age of 4 years. Isolated delays were usually mild, but co-occurring difficulties were mostly moderate or severe. Overlap between developmental delays depended on the …
Migraine in a pediatric population: a clinical study in children younger than 7 years of age.
2015
Aim Migraines in children younger than 7 years of age have received limited attention in the published literature. The aim of this study is to describe the characteristics of migraine phenotypes in children younger than 7 years, and to compare them with migraines in children older than 7 years of age. Method We reviewed all standard clinical files, collected over 4 years, related to children with a diagnosis of primary headache. We included all children younger than 7 years diagnosed with migraine in our study. Results A total of 374 children (188 males, 186 females) were affected by migraine with/without aura: 40 of these patients (10.7%; 20 males, 20 females; mean age 5y 7mo, SD 1y 2mo) w…
ADHD symptoms and learning behaviors in children with ASD without intellectual disability. A mediation analysis of executive functions
2018
In spite of its importance for education, the relationship between learning behaviors (LB), attention deficit hyperactivity disorder symptoms (ADHD) and executive functioning (EF) in children with autism spectrum disorder (ASD) has hardly been explored. The first objective of the present study was to compare children with ASD without intellectual disability and children with typical development (TD) on ADHD symptoms and learning behaviors: Motivation/ competence, attitude toward learning, persistence on the task, and strategy/flexibility. The second objective was to analyze the mediator role of behavioral regulation and metacognition components of EF between ADHD symptoms and learning behav…
Exogenous t-PA Administration Increases Hippocampal Mature BDNF Levels. Plasmin- or NMDA-Dependent Mechanism?
2014
International audience; Brain-derived neurotrophic factor (BDNF) through TrkB activation is central for brain functioning. Since the demonstration that plasmin is able to process pro-BDNF to mature BDNF and that these two forms have opposite effects on neuronal survival and plasticity, a particular attention has been paid to the link between tissue plasminogen activator (tPA)/plasmin system and BDNF metabolism. However, t-PA via its action on different N-methyl-D-aspartate (NMDA) receptor subunits is also considered as a neuromodulator of glutamatergic transmission. In this context, the aim of our study was to investigate the effect of recombinant (r)t-PA administration on brain BDNF metabo…
Development of early motor skills and language in children at risk for familial dyslexia
2007
Differences in motor development and the relationship between motor and language development were studied in 88 children with familial risk for dyslexia (43 females, 45 males; at-risk group) and 88 children without familial risk for dyslexia (35 females, 53 females; control group; n=176) during the first two years of life. A structured parental questionnaire was used to assess motor development. Expressive language skills were assessed at the age of 18 months with the Reynell Developmental Language Scales and at 18 and 24 months with the MacArthur Communicative Development Inventories. At group level, the motor development of children in both the at-risk and control groups was similar. Howe…