Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS): autism spectrum disorder or a different endophenotype?

[22q11.2 deletion syndrome]

High prevalence of autism spectrum disorders (ASD ) has been reported in 22 q 11 .2 DS , although this has been based solely on parent report measures . This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire ) AND a standardized observation measure (Autism Diagnostic Observation Schedule ) and suggests that ASD is not as common as previously reported in 22 q 11 .2 DS . Differences in methodology , along with comorbid conditions such as anxiety , likely contribute to false elevations in ASD prevalence and information from multiple sources should be included in the evaluation of ASD .

Diseases
Validation

Diseases presenting "anxiety" symptom

22q11.2 deletion syndrome

achondroplasia

adrenal incidentaloma

adrenomyeloneuropathy

cadasil

child syndrome

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital toxoplasmosis

cutaneous mastocytosis

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

junctional epidermolysis bullosa

locked-in syndrome

monosomy 21

oligodontia

oral submucous fibrosis

phenylketonuria

von hippel-lindau disease

x-linked adrenoleukodystrophy

This symptom has already been validated