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 "high prevalence" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

alpha-thalassemia

cholangiocarcinoma

classical phenylketonuria

congenital adrenal hyperplasia

congenital toxoplasmosis

cowden syndrome

cutaneous mastocytosis

cystinuria

dracunculiasis

dystrophic epidermolysis bullosa

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

legionellosis

lymphangioleiomyomatosis

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

phenylketonuria

primary hyperoxaluria type 1

pyomyositis

scrub typhus

sneddon syndrome

trochlear dysplasia

waldenström macroglobulinemia

wiskott-aldrich syndrome

zellweger syndrome

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