The autism spectrum phenotype in ADNP syndrome.
Anne B Arnett, Candace L Rhoads, Kendra Hoekzema and 6 others
PMID 30107084WHAT IT FOUND
In ADNP syndrome, all eleven participants had intellectual disability, but only seven met autism criteria.
Social communication severity tracked verbal IQ, and repetitive sensory-motor behavior stood out.
Key findings
01In the ADNP group, seven of eleven participants met autism criteria, and all had intellectual disability ranging from moderate to profound.
02Verbal IQ accounted for 57% of the variance in ADOS-2 social affect severity in ADNP, compared with 40% in CHD8, 0.0% in Other Mutation, and 16% in idiopathic ASD.
03Within ADNP, sensory/motor repetitive behaviors were rated more severe than self-injurious, compulsive, and ritualistic/sameness behaviors, and were more severe than in the Other Mutation and idiopathic ASD groups.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
Read the rest of this summary
You get three full summaries a month, free, and we do not ask for a card. Search, the TL;DRs and your library stay unlimited either way.
What it does not show
The ADNP group was very small, so the phenotype should be read as a description of a limited sample, not a stable population estimate. Recruitment still depended on genetic testing, which is more likely when impairment is present, so milder ADNP features may be missing. Analyses limited to participants with both ADNP syndrome and autism were underpowered, so non-significant differences in that subgroup cannot be taken as evidence of no difference. Some cognitive scores were estimated or imputed because participants could not complete standard testing, which may affect IQ-related findings.
Declared interests
The paper lists NIH extramural and non-U.S. government research support. Dr. Eichler is on the scientific advisory board of DNAnexus, Inc.; the other named authors report no biomedical financial interests or potential conflicts.
The easy way to misread this
Do not read ADNP syndrome as always causing autism. In this cohort, seven of eleven participants met autism criteria, while all had intellectual disability, so the mutation alone does not define the behavioral phenotype.