Preferred Label : Asperger syndrome, X-linked, susceptibility to, 1;
Obsolete resource : true;
Moved to : 300425;
Symbol : ASPGX1;
CISMeF acronym : ASPGX1;
Type : Phenotype, molecular basis known;
Description : Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850).
The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria
for Asperger syndrome, which has many of the same features as autism. In general,
patients with Asperger syndrome and autism exhibit qualitative impairment in social
interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye
gaze, facial expression, body postures, and gestures, failure to develop appropriate
peer relationships, and lack of social sharing or reciprocity. Patients also exhibit
restricted, repetitive and stereotyped patterns of behavior, interests, and activities,
including abnormal preoccupation with certain activities and inflexible adherence
to routines or rituals. Asperger syndrome is primarily distinguished from autism by
the higher cognitive abilities and a more normal and timely development of language
and communicative phrases. Gillberg et al. (2001) described the development of the
Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which
they claimed has a strong validity in the diagnosis of the disorder. For a discussion
of genetic heterogeneity of Asperger syndrome, see 608638.;
Inheritance : Isolated cases; Multifactorial; X-linked;
Molecular basis : Associated with mutation in the neuroligin-3 gene (NLGN3, 300336.0001);
Prefixed ID : 300494;
Origin ID : 300494;
UMLS CUI : C1845341;
Automatic exact mappings (from CISMeF team)
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- Validated automatic mappings to NTBT
