Clinical Exome Sequencing in Patients with Undifferentiated General Developmental Delay and Intellectual Disabilities

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Abstract

Introduction. Each fifth neurodevelopmental disorder is diagnosed in massively parallel sequencing only.

Objective: to present the experience of exome sequencing in children with undifferentiated general developmental delay and intellectual disabilities.

Materials and methods. We assessed 33 patients (19 males and 14 females) at the age of 4.5 ± 2.4 years with general developmental delay and intellectual disabilities. We studied patients' medical and family histories and their neurological statuses as well as the findings of neuropsychological testing and clinical exome sequencing.

Results.The effectiveness of clinical exome sequencing in the sample was 39.4% (MECP2, WDR45, SYNJ1, ADAR, PMM2, SHANK3, KMT5B, UBE3A, PTPN11, CTNNB1, and MTOR mutations). The pathogenic variants were significantly more prevalent in the patients with motor development delay, 53.8% of patients (P < .05). Most incident conditions included insomnias (46.2%), autism spectrum disorders (38.5%), developmental regression (38.5%), and epilepsy (38.5%). Genetic disorders were more common in the female patients .

Conclusion. With the study results, we can suppose that ca. 40% of patients with undifferentiated general developmental delay and intellectual disabilities had genetic disorders and, therefore, needed further evaluation with molecular genetic testing.

About the authors

Dmitriy V. I

Khabarovsk Center for the Development of Psychology and Childhood «Psylogia»; Far-East State Medical University

Author for correspondence.
Email: i.dmitry@psylogia.ru
ORCID iD: 0000-0002-9967-0279
SPIN-code: 3332-5052
Scopus Author ID: 57226670660
ResearcherId: AAE-2838-2022

Cand. Sci. (Med.), Deputy Director General for research and medical activities, Associate Professor, Department of neurology and neurosurgery

Russian Federation, Khabarovsk; Khabarovsk

Viktoriya A. Ioksha

Far-East State Medical University

Email: vioksha980@mail.ru
ORCID iD: 0000-0002-7548-3831

student, Pediatric faculty

Russian Federation, Khabarovsk

Tatyana N. Proskokova

Far-East State Medical University

Email: proskokova2011@yandex.ru
ORCID iD: 0000-0002-5209-2440

D. Sci. (Med.), Prof., Department of neurology and neurosurgery

Russian Federation, Khabarovsk

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Copyright (c) 2023 I D.V., Ioksha V.A., Proskokova T.N.

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