[Bourneville's tuberous sclerosis and autism]

Area of Science:

• Neurodevelopmental disorders
• Genetics and rare diseases

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder with variable expressivity.
• TSC is associated with a high prevalence of neurodevelopmental and behavioral disorders, including autism spectrum disorder (ASD).
• Early diagnosis of TSC can be challenging, particularly when autistic features are the primary presenting symptoms.

Observation:

• Infantile autism can mask the early signs of tuberous sclerosis.
• A systematic search for major and minor diagnostic criteria of tuberous sclerosis is recommended in all cases of infantile autism.
• Child psychiatrists play a key role in managing the multifaceted aspects of TSC-ASD co-occurrence.

Findings:

• The co-occurrence of tuberous sclerosis and autism spectrum disorder is common.
• Delayed recognition of TSC in children with autism can impede appropriate care.
• Key management areas include behavioral issues, social communication deficits, intellectual disability, feeding problems, and family support.

Implications:

• Increased awareness and screening for TSC in children with autism are warranted.
• Multidisciplinary management involving child psychiatry and support organizations is essential.
• Early identification of TSC can lead to better outcomes for affected children and their families.