scholarly journals VP06.02: Prenatal diagnosis and antenatal counselling in case of developmental delay and intellectual disability: case series

2020 ◽  
Vol 56 (S1) ◽  
pp. 75-75
Author(s):  
R.K. Bhatt
Keyword(s):  
Intellectual Disability ◽  
Prenatal Diagnosis ◽  
Developmental Delay ◽  
Case Series

scholarly journals Genetic Diagnosis of Chromosomal Congenital Anomalies in Albanian Pediatric Patients by Array CGH

2017 ◽  
Vol 5 (5) ◽  
pp. 587-591
Author(s):  
Anila Babameto-Laku ◽  
Dorina Roko ◽  
Gentian Vyshka
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Array Cgh ◽  
International System ◽  
Genetic Diagnosis ◽  
Case Series ◽  
Comparative Genomic ◽  
Facial Dysmorphism ◽  
Chromosomal Anomalies

AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application.MATERIAL AND METHODS: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies. The age range was from newborn to five years old. The cytogenetic analysis determined by a standard method of G-banding according to the International System for Human Cytogenetic Nomenclature (ISCN 2005) was performed for all our patients, while array CGH was performed on genomic DNA isolated from the blood of 7 cases.RESULTS: Among the seven patients analysed with array CGH, three patients resulted in duplication and one deletion, one patient with a microdeletion and three patients with duplication. Array CGH facilitated the recognition of submicroscopic deletions and duplications as risk factors for genetic diagnosis in all our patients.CONCLUSIONS: Our case series with congenital chromosomal anomalies confirms the high diagnostic value of the method, as suggested by previous studies. The technique must be available also in less developed countries, to significantly improve the genetic diagnosis of paediatric patients with developmental delay or intellectual disability, congenital anomalies and dysmorphic features. The identification of chromosomal abnormalities in these patients and the genetic counselling will provide family members with an explanation for their child’s developmental disability or birth defect, allowing better information about recurrence risks, and permit the anticipation of certain medical problems that require intervention.

scholarly journals Clinical and Genetic Characteristics and Prenatal Diagnosis of Rare Monogenic Global Developmental Delay and Intellectual Disability.

2020 ◽  
Author(s):  
Liling Lin ◽  
Ying Zhang ◽  
Hong Pan ◽  
Jingmin Wang ◽  
Yu Qi ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Prenatal Diagnosis ◽  
Developmental Delay ◽  
Hot Spot ◽  
Disease Onset ◽  
Genetic Diagnosis ◽  
Global Developmental Delay ◽  
Genetic Characteristics ◽  
Pathogenic Variants

Abstract Background: The estimated worldwide prevalence of global developmental delay (GDD) and intellectual disability (ID) is 1-3%. Rare monogenic GDD/ID is poorly characterized because its low prevalence limits research. In this study, we aimed to describe the diagnostic courses and clinical and genetic characteristics of a cohort with rare monogenic GDD/ID.Method:We retrospectively analyzed the diagnostic courses, clinical characteristics, and genetic spectra of rare monogenic GDD/ID patients. We also conducted a follow-up study on prenatal diagnosis in these families. Mutation pathogenicity was interpreted by molecular geneticists and clinicians according to the guidelines of the American College of Medical Genetics and Genomics. Results:Among 108 patients with rare monogenic GDD/ID, it often took 0.5-4 years and 3-5 referrals to obtain a genetic diagnosis after disease onset. Onset typically occurred before 6 years of age, and patients usually presented moderate to severe GDD/ID. The most common coexisting conditions were epilepsy (68%), facial dysmorphism (14%) and microcephaly (13%). In total, 149 different pathogenic variants were found in 81 different genes among the 108 pedigrees, and 71 variants were novel. The most common inheritance patterns in this outbred Chinese population were autosomal recessive (AR; 46.3%), autosomal dominant (AD; 37%), and X-linked (XL; 16.7%). GLB1, PLA2G6, SCN2A, SHANK3 and STXBP1 were important causal genes. Hot-spot mutations were rarely found. By the follow-up, 43 families, including 24 ARID, 13 ADID and 6 XLID families, had undergone prenatal diagnosis. The offspring of 6 ARID, 2 ADID and 2 XLID families had the same pathogenic variants as the probands.Conclusion:Rare monogenic GDD/ID is characterized by early onset, relatively severe symptoms, great clinical variability and genetic heterogeneity. Moreover, timely referrals to genetic counseling and prenatal diagnostic laboratories are important for affected families planning to have additional children.

scholarly journals Cerebrovascular diseases in two patients with entire NSD1 deletion

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Toshiyuki Itai ◽  
Satoko Miyatake ◽  
Taku Hatano ◽  
Nobutaka Hattori ◽  
Atsuko Ohno ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Brain Imaging ◽  
Developmental Delay ◽  
Movement Disorders ◽  
Subdural Hematoma ◽  
Early Onset ◽  
Cerebrovascular Diseases ◽  
Brain Contusion ◽  
Abnormal Gait

AbstractWe describe two patients with NSD1 deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). A 39-year-old female showed developmental delay and abnormal gait in infancy, and developed slowly-progressive intellectual disability and movement disorders. Brain imaging suggested recurrent parenchymal hemorrhages. A 6-year-old male had tremor as a neonate and brain imaging revealed subdural hematoma and brain contusion. This report suggests possible involvement of CVDs associated with NSD1 deletion.

Prenatal diagnosis of congenital complete heart block — A case series

2008 ◽  
Vol 84 ◽  
pp. S153-S154
Author(s):  
Sofia Granja ◽  
Patrícia Costa ◽  
Ana Carriço ◽  
Cláudia Moura ◽  
José Monterroso ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Heart Block ◽  
Complete Heart Block ◽  
Case Series ◽  
Congenital Complete Heart Block

scholarly journals Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

2015 ◽  
Vol 18 (2) ◽  
pp. 168-173 ◽  
Author(s):  
Rolph Pfundt ◽  
Kat Kwiatkowski ◽  
Alan Roter ◽  
Anju Shukla ◽  
Eric Thorland ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Clinical Performance

scholarly journals Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

2021 ◽  
Author(s):  
Uirá Souto Melo ◽  
Devon Bonner ◽  
Kevin C. Kent Lloyd ◽  
Ala Moshiri ◽  
Brandon Willis ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Global Developmental Delay ◽  
Loss Of Function

IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep

2021 ◽  
Author(s):  
Evan Jiang ◽  
Mark P. Fitzgerald ◽  
Katherine L. Helbig ◽  
Ethan M. Goldberg
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Synapse Formation ◽  
De Novo ◽  
Interleukin 1 ◽  
Autism Spectrum ◽  
Neurological Dysfunction ◽  
Behavioral Disorder ◽  
Clinical Genetic ◽  
Severe Intellectual Disability

AbstractInterleukin-1 receptor accessory protein-like 1 (IL1RAPL1) encodes a protein that is highly expressed in neurons and has been shown to regulate neurite outgrowth as well as synapse formation and synaptic transmission. Clinically, mutations in or deletions of IL1RAPL1 have been associated with a spectrum of neurological dysfunction including autism spectrum disorder and nonsyndromic X-linked developmental delay/intellectual disability of varying severity. Nearly all reported cases are in males; in the few reported cases involving females, the clinical presentation was mild or the deletion was identified in phenotypically normal carriers in accordance with X-linked inheritance. Using genome-wide microarray analysis, we identified a novel de novo 373 kb interstitial deletion of the X chromosome (Xp21.1-p21.2) that includes exons 4 to 6 of the IL1RAPL1 gene in an 8-year-old girl with severe intellectual disability and behavioral disorder with a history of developmental regression. Overnight continuous video electroencephalography revealed electrical status epilepticus in sleep (ESES). This case expands the clinical genetic spectrum of IL1RAPL1-related neurodevelopmental disorders and highlights a new genetic association of ESES.

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