ADNP-Related Helsmoortel-Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring.

ADNP

Pathogenic sequence variants in ADNP, a single-gene form of autism spectrum disorder

ADNP-related Helsmoortel-Van der Aa syndrome is a single-gene form of autism spectrum disorder associated with a broad range of cognitive, behavioural and physical features that can profoundly impair functioning and quality of life for patients and their families. Because it remains rare, most clinicians are unfamiliar with it and lack guidance for assessment and monitoring. The authors searched PubMed, PsycInfo and Embase through 18 July 2026, including articles describing at least one diagnosed individual: 28 publications met criteria, yielding data on 209 cases organised by clinical domain. From these they derive assessment and monitoring recommendations usable both by caregivers advocating for their children and by treating clinicians. No formal risk-of-bias assessment was performed, and results remain limited by small sample sizes and variability in symptom reporting.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

For a syndrome seen once or twice in a career, a synthesis of 209 cases with a monitoring framework beats scattered reading of isolated case reports. The limitation is acknowledged by the authors themselves: no risk-of-bias assessment, heterogeneous series, and phenotypic frequencies to be read as orders of magnitude rather than prevalences. Use it as a follow-up consultation checklist, not as a penetrance reference.

Analysis by Dr Thibaut Benquey