Pediatric neurology最新文献

Background: Complex motor stereotypies (CMS) are repetitive movements classified into "primary" for typically developing individuals and "secondary" for those with other neurological or neurodevelopmental disorders. This study evaluated children diagnosed with primary CMS to assess motor stereotypy outcomes, sex-related differences, and early neurodevelopmental histories that play a key role in diagnostic classification.

Methods: Sixty-five healthy participants diagnosed with pCMS (44 males, 21 females), mean age 9.1 ± 3.6 years (range 3-17 years), completed follow-up telephone interviews and questionnaires on symptom onset, medical history, and autism screens. Stereotypy severity was rated by both parents and affected children using the Stereotypy Severity Scale and Stereotypy Linear Analog Scale (SLAS).

Results: The mean stereotypy onset was 1.2 ± 1.1 years. Stereotypy Severity Scale Motor and Global Impairment scores were positively correlated and showed that the Impairment score was significantly influenced by the Motor Interference score. Stereotypy severity was reduced in older individuals, primarily due to decreased Motor Intensity scores. Females showed greater Global Impairment after adjusting for age. Comorbidities included anxiety disorders (35%), attention-deficit/hyperactivity disorder (35%), tics/Tourette syndrome (9%), and obsessive-compulsive disorder (6%). A history of motor and/or speech delays was reported in 58%.

Conclusions: Although stereotypical symptoms were present in all subjects, there was an apparent age-related reduction in movement intensity. Stereotypies in females were associated with greater impairment in self-esteem, family life, school, and social acceptance. The presence of mild, early neurodevelopmental delays, and/or later appearing neuropsychiatric comorbidities is common among children with pCMS and should not be considered exclusionary for the diagnosis.

Background: Limb-girdle muscular dystrophies (LGMDs) are a group of genetic disorders marked by progressive weakness and atrophy of proximal limb muscles. Calpainopathy is the most prevalent autosomal recessive form (LGMD-R1), caused by biallelic variants in the CAPN3 gene, whereas the less common autosomal dominant (LGMD-D4) results from a heterozygous variation.

Methods: This retrospective study elaborates on the clinical and molecular characteristics of patients with CAPN3-related dystrophies in an Egyptian cohort of 48 LGMD patients.

Results: Exome sequencing identified 13 CAPN3 variants in 12 LGMD-R1 patients and one with LGMD-D4. Among these, two novel missense variants were described: c.581C>T (p.Ser194Phe) and c.1536G>C (p.Glu512Asp). More than half of the revealed variants were missense mutations, a finding that is consistent with previous studies in other populations. A genotype-phenotype correlation could not be established, particularly due to the presence of inter- and intrafamilial variability. This study supports the increased prevalence of (c.1343G>A, p.Arg448His) and (c.1027G>T, p.Glu343∗) variants in Egyptian patients.

Conclusion: Given the high rate of consanguinity in Egypt, further extensive studies focusing on the genetic modifiers in the disease progression and the role of environmental factors are recommended.

Background: Children with congenital anomalies (CAs) are at an increased risk of developing epilepsy, but the relative risk (RR) for specific anomaly subtypes remains underexplored. This study aims to estimate the risk of epilepsy, as indicated by antiseizure medication (ASM) prescriptions, among children with various CAs compared to children without anomalies.

Methods: We utilized data from six European regions participating in the European network for surveillance of congenital anomalies registries, covering births from 2000 to 2015. Children with major CAs, classified by International Classification of Diseases codes, were compared to a reference population without anomalies. Epilepsy was identified based on >1 ASM prescription within a year. RRs were calculated using mixed-effects models to account for registry-specific variations.

Results: The study included 60,662 children with anomalies and 1,722,912 reference children, with a mean follow-up of 5.5 years. By age 5 years, ASM prevalence was 17.8 per 1000 in anomaly groups and 2.0 per 1000 in reference children. The highest RRs were observed in children with central nervous system anomalies, including anomalies of the corpus callosum, severe microcephaly, and hydrocephalus. Comparable RRs were found in children with severe congenital heart defects and gastrointestinal anomalies, primarily driven by diaphragmatic hernia.

Conclusions: Children with CAs have a significantly higher risk of epilepsy, with central nervous system, chromosomal, severe congenital heart defect, and diaphragmatic hernia being key contributors. This study highlights the importance of tailored monitoring and early intervention for high-risk groups to improve neurological outcomes.