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The Biological Broader Autism Phenotype 

The Biological Broader Autism Phenotype
Chapter:
The Biological Broader Autism Phenotype
Author(s):

Janet E. Lainhart

and Nicholas Lange

DOI:
10.1093/med/9780195371826.003.0032
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date: 19 October 2017

The Biological Broader Autism Phenotype (BBAP) is the group of alterations in the development, structure, or function of the brain, other bodily systems, and their components that are inherited with autism in families. This chapter focuses on the key candidate members of the BBAP. BBAP findings to date are consistent with biological subtypes of autism and risk genes being inherited or occurring de novo. Although macrocephaly does not appear to show familiality, extreme macrocephaly may cluster in a subset of autism families. Approximately 4.8% of individuals with autism have extreme macrocephaly, and these individuals appear to be at increased risk of having inherited or de novo mutations in the PTEN gene. Case series studies suggest that when the mutation is inherited, macrocephaly and developmental delay may be inherited along with autism in these families. Similarly, hyperserotonemia, which occurs in approximately 20% of individuals with autism, may identify a biological subtype of autism and autism families. Present-day findings suggest that the biological broader phenotype of autism is heterogeneous, as is autism itself. Alterations of bodily structure and function that are linked genetically to autism may not be identical in all families.

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