A case report on Clinical delineation of Calcium Voltage-Gated Channel subunit Alpha1 D (CACNA1D) mutation

A 9-year-old female patient diagnosed with autism spectrum disorder was born at full term via normal spontaneous vaginal delivery. The neonatal history was unremarkable. Her mother began to seek medical advice at the age of 4 years as the child demonstrated speech and language delay with challenging behaviors. These challenging behaviors took the form of aggressiveness, self-injurious behaviors, and repetitive motor mannerisms with hand flapping, lack of sleep, and attention-deficit hyperactivity-like disorders.

Results

c) Both a and b Autism spectrum disorder is a group of conditions in which the person experiences substantial problems in socialization, communication, and language. People also experience unusual repetitive and self-injurious behaviors. Genetics has an important role in the etiology of autism spectrum disorder. Variations in CACNA1 genes were found to be associated with a variable degree of autism spectrum disorder and other neurodevelopmental disorders.

c) Both a and b

Autism spectrum disorder is a group of conditions in which the person experiences substantial problems in socialization, communication, and language. People also experience unusual repetitive and self-injurious behaviors. Genetics has an important role in the etiology of autism spectrum disorder. Variations in CACNA1 genes were found to be associated with a variable degree of autism spectrum disorder and other neurodevelopmental disorders.

#1. What are the clinical features of this syndrome?

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Adapted from:

  1. Alzahrani A, Alshalan M, Alfurayh M, Bin Akrish A, Alsubeeh NA, Al Mutairi F. Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review. Front Neurol. 2023 Apr 14;14:1131490. doi: 10.3389/fneur.2023.1131490. PMID: 37122292; PMCID: PMC10140517.