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Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related
Amelle Shillington1, Ernest Pedapati1, Robert Hopkin1
1Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Insights
Activity-dependent neuroprotector homeobox gene (ADNP) syndrome, a common cause of autism spectrum disorder (ASD), is detailed in a case report. Antipsychotic medication effectively managed behavioral issues, improving early intervention outcomes.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Pediatrics
Background:
- Autism spectrum disorder (ASD) affects 1 in 59 children, with gene variants like ADNP being a common cause.
- ADNP syndrome is characterized by ASD and intellectual disability.
- Syndromic ASD often involves comorbidities and developmental challenges.
Observation:
- A case report details a 2.5-year-old diagnosed with ADNP syndrome.
- Key features included ASD, global developmental delay, behavioral issues, heart defects, and vision problems.
- Congenital diaphragmatic hernia (CDH) was a novel initial presentation for this syndrome.
Findings:
- Antipsychotic medication led to near-complete resolution of behavioral outbursts.
- Symptom management facilitated engagement in early intervention therapies.
- Progress in language acquisition was observed following treatment.
Implications:
- This report offers guidance on antipsychotic dosing for ADNP syndrome.
- Effective symptom management can enhance early intervention success.
- The first reported case of CDH in ADNP syndrome expands the condition's known features.
Background:
Autism spectrum disorder (ASD) affects approximately one in 59 children. Variants in the activity-dependent neuroprotector homeobox ADNP (OMIM #611386) gene may be one of the most common single-gene causes of syndromic ASD. Most patients diagnosed with ADNP syndrome have ASD as a comorbidity, and all patients have mild-to-severe intellectual disability.
Methods/Case Report:
We present a case report of a patient diagnosed with ADNP syndrome at 2.5 years of age. The patient has many of the key features of the syndrome, including ASD, global developmental delay, behavioral problems, congenital heart defect, early tooth eruption, and vision problems. The patient's initial presentation included congenital diaphragmatic hernia (CDH), which has not been previously reported in this condition.
Results:
The patient exhibited frequent behavioral outbursts and was initiated on antipsychotic medication with near-complete resolution of symptoms allowing her to engage more fully in early intervention therapies leading to progress in language acquisition.
Conclusion:
This short report provides guidance for antipsychotic medication dosing to improve early intervention outcomes. This is the first report of CDH in this syndrome.
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