What This Means
This research describes the case of a 10-year-old boy with autism spectrum disorder (ASD) and intellectual disability who was ultimately diagnosed with a rare genetic condition called Helsmoortel-Van der Aa syndrome (HVDAS). The boy had a wide range of symptoms beyond autism, including delays in motor and language development, unusual facial features, early tooth eruption, hormonal abnormalities, abnormal brain wave activity on EEG testing, and urinary/genital findings. Standard genetic tests — chromosome analysis and a test called chromosomal microarray — did not find anything abnormal. It was only through a more comprehensive test called whole-exome sequencing, which reads the protein-coding portions of a person's entire DNA, that the specific genetic mutation was found: a small deletion in a gene called ADNP that disrupts its normal function.
This research suggests that when a child has autism along with other features such as developmental delays, distinctive physical features, neurological signs, or involvement of multiple body systems, doctors should consider the possibility that the autism is part of a broader genetic syndrome. In such cases, if routine genetic tests come back normal, more advanced testing like whole-exome sequencing may be necessary to find the underlying cause. Identifying the specific genetic diagnosis can be important for understanding the condition, informing families about recurrence risks, and potentially guiding care.
HVDAS is a rare condition caused by changes in the ADNP gene, and this case adds to the medical literature describing its range of features. The findings highlight that a genetic cause of autism may be missed if clinicians rely only on standard first-line tests, and that a syndromic presentation — autism plus other medical findings — should prompt more thorough genetic investigation.