Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances

2019 ◽  
Vol 63 (11) ◽  
pp. 1379-1389 ◽  
Author(s):  
L. C. Souza ◽  
A. P. Santos ◽  
I. C. Sgardioli ◽  
N. L. Viguetti‐Campos ◽  
J. R. Marques Prota ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Genomic Imbalances ◽  
Phenotype Comparison

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

scholarly journals Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family

2019 ◽  
Vol 35 (3) ◽  
Author(s):  
Muhammad Imran Naseer ◽  
Mahmood Rasool ◽  
Angham Abdulrahman Abdulkareem ◽  
Adeel G. Chaudhary ◽  
Syed Kashif Zaidi ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Genetic Defect ◽  
Compound Heterozygous ◽  
Sequencing Analysis ◽  
The Novel ◽  
Primary Microcephaly ◽  
Saudi Family ◽  
Exon 9 ◽  
Compound Heterozygous Mutations

Objective: Primary microcephaly (MCPH) is a rare autosomal recessive disorder characterized by impaired congenital reduction of brain size along with head circumference and intellectual disability. MCPH is a heterogeneous disorder and more than twenty four genes associated with this disease have been identified so far. The objective of this study was to find out the novel genes or mutations leading to the genetic defect in a Saudi family with primary microcephaly. Methods: Whole exome sequencing was carried out to find the novel mutation and the results was further validated using Sanger sequencing analysis. This study was done in the Center of excellence in Genomic Medicine and Research, King Abdulaziz University under KACST project during 2017 and 2018. Results: We report a novel compound heterozygous mutations c.797C>T in exon 7 and c.1102G>A in exon 9 of the WD repeat domain 62 (WDR62) (OMIM 604317) gene in two affected siblings in Saudi family with intellectual disability, speech impediments walking difficulty along with primary microcephaly. Two rare, missense variants were detected in heterozygous state in the WDR62 gene in these two affected individuals from the heterozygous parents. Conclusions: A compound heterozygous mutations c.797C>T in exon 7 and c.1102G> A in exon 9 of the WDR62 gene was identified. WDR62 gene is very important gene and mutation can lead to neuro developmental defects, brain malformations, reduced brain and head size. These results should be taken into consideration during prognostic discussions and mutation spectrum with affected patients and their families in the Saudi population. doi: https://doi.org/10.12669/pjms.35.3.36 How to cite this:Naseer MI, Rasool M, Abdulkareem AA, Chaudhary AG, Zaidi SK, Al-Qahtani MH. Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family. Pak J Med Sci. 2019;35(3):---------.  doi: https://doi.org/10.12669/pjms.35.3.36 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability

2021 ◽  
Author(s):  
Amama Ghaffar ◽  
Faiza Rasheed ◽  
Muhammad Rashid ◽  
Hans van Bokhoven ◽  
Zubair M. Ahmed ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay
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