التفاصيل البيبلوغرافية
| العنوان: |
Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis |
| المؤلفون: |
Paige M. Siper, Christina Layton, Tess Levy, Stacey Lurie, Nurit Benrey, Jessica Zweifach, Mikaela Rowe, Lara Tang, Sylvia Guillory, Danielle Halpern, Ivy Giserman-Kiss, Maria Del Pilar Trelles, Jennifer H. Foss-Feig, Silvia De Rubeis, Teresa Tavassoli, Joseph D. Buxbaum, Alexander Kolevzon |
| المصدر: |
Genes; Volume 12; Issue 3; Pages: 351 |
| بيانات النشر: |
Multidisciplinary Digital Publishing Institute |
| سنة النشر: |
2021 |
| المجموعة: |
MDPI Open Access Publishing |
| مصطلحات موضوعية: |
ADNP syndrome, sensory reactivity, autism spectrum disorder |
| جغرافية الموضوع: |
agris |
| الوصف: |
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. |
| نوع الوثيقة: |
text |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| Relation: |
Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12030351 |
| DOI: |
10.3390/genes12030351 |
| الاتاحة: |
https://doi.org/10.3390/genes12030351 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: |
edsbas.70D64839 |
| قاعدة البيانات: |
BASE |