Sensory reactivity symptoms are a core feature of ADNP syndrome irrespective of autism diagnosis

Siper, P. M., Layton, C., Levy, T., Lurie, S., Benrey, N., Zweifach, J., Rowe, M., Tang, L., Guillory, S., Halpern, D., Giserman-Kiss, I., Del Pilar Trelles, M., Foss-Feig, J. H., De Rubeis, S. ORCID: https://orcid.org/0000-0001-9383-6883, Tavassoli, T. ORCID: https://orcid.org/0000-0002-7898-2994, Buxbaum, J. D. and Kolevzon, A. (2021) Sensory reactivity symptoms are a core feature of ADNP syndrome irrespective of autism diagnosis. Genes, 12 (3). e351. ISSN 2073-4425 doi: 10.3390/genes12030351

Abstract/Summary

Background: Activity dependent neuroprotective protein (ADNP) syndrome is one of the most common single-gene causes of autism spectrum disorder (ASD) and intellectual disability, however, the phenotypes remain poorly described. Here we examine the sensory reactivity phenotype in children and adolescents with ADNP syndrome. Methods: Twenty-two individuals with ADNP syndrome received comprehensive clinical evaluations including standardized observations, caregiver interviews, and questionnaires to assess sensory reactivity symptoms. Relationships between sensory symptoms and age, sex, ASD, IQ, and adaptive behavior were examined. Genotype-phenotype correlations with the recurrent p.Tyr719* variant were also explored. Results: Sensory reactivity symptoms were observed and reported in all participants. A syndrome-specific phenotype was identified, characterized by high levels of sensory seeking across tactile, auditory, and visual domains. Tactile hyporeactivity, characterized by pain insensitivity, was reported in the majority of participants. Sensory symptoms were identified across individuals regardless of age, sex, IQ, adaptive ability, genetic variant, and most importantly, ASD status. No significant differences were identified between participants with and without the recurrent p.Tyr719* variant on any sensory measure. Conclusions: Sensory reactivity symptoms are a common clinical feature of ADNP syndrome. Quantifying sensory reactivity using existing standardized measures will enhance understanding of sensory reactivity in individuals with ADNP syndrome and will aid in clinical care. The sensory domain may also represent a promising target for treatment in clinical trials.

Item Type	Article
URI	https://reading-clone.eprints-hosting.org/id/eprint/96599
Identification Number/DOI	10.3390/genes12030351
Refereed	Yes
Divisions	Life Sciences > School of Psychology and Clinical Language Sciences > Department of Psychology
Uncontrolled Keywords	ADNP syndrome, sensory reactivity, autism spectrum disorder
Publisher	MDPI
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