scholarly journals Antenatal Counselling in Developmental Delay and Intellectual Disability: Case Series

2021 ◽  
Vol 5 (2) ◽  
Author(s):  
Bhatt Reema ◽  
Puri Ratna Dua ◽  
Goswami Jyotindra Narayan
Keyword(s):  
Intellectual Disability ◽  
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 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.

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.

scholarly journals Characteristics of seizure frequency among Malaysian children diagnosed with structural– metabolic epilepsy

2012 ◽  
Vol 03 (03) ◽  
pp. 244-250 ◽  
Author(s):  
Muhannad RM Salih ◽  
Mohd Baidi Bahari ◽  
Mohamed Azmi Ahmad Hassali ◽  
Asrul Akmal Shafie ◽  
Omer Qutaiba B Al-lela ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Seizure Frequency ◽  
Substantial Reduction ◽  
Focal Seizure ◽  
Global Developmental Delay ◽  
Neurology Clinic ◽  
Collection Form ◽  
Metabolic Epilepsy

ABSTRACT Introduction: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 months, the required data were extracted from the medical records using a pre-designed data collection form. Results: Seizure frequency showed no significant association with patient’s demographics and clinical characteristic. However, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, respectively) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Conclusion: Among children with structural–metabolic epilepsy, Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients.

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family

2016 ◽  
Vol 371 ◽  
pp. 121-125 ◽  
Author(s):  
Muhammad Imran Naseer ◽  
Mahmood Rasool ◽  
Mohammed M. Jan ◽  
Adeel G. Chaudhary ◽  
Peter Natesan Pushparaj ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Novel Mutation ◽  
Saudi Family
Sign in / Sign up

Export Citation Format

Share Document