A ’global’ approach to global developmental delay and intellectual disability?

Shevell, Michael

doi:10.1111/j.1469-8749.2010.03826.x

Cited by 9 publications

(4 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This further raises the question of generalizability of previously published reports to general and community pediatricians. More recent reports demonstrate an increased positive likelihood ratio of chromosomal microarray in the context of Autism combined with particular comorbidities, such as cognitive (intellectual) impairment [12,13] and epilepsy [13]. …”

Section: Introductionmentioning

confidence: 99%

Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic

et al. 2014

View full text Add to dashboard Cite

Autism is an etiologically heterogeneous developmental disorder for which the range of genetic investigations has expanded considerably over the past decade. Introduction of chromosomal microarray (CMA) to clinical practice has expanded the range of conditions which pediatricians are able to detect. This study reviewed the utilization, yield and cost of genetic investigations in a sample of children with pervasive developmental disorders (PDD) in an Australian metropolitan child development service. Six hundred and ninety eight patients with PDD were identified from the clinic population. One hundred and ten (15.7%) of the clinic population had undergone investigation with chromosomal microarray, 140 (20.0%) with karyotype (KT), and 167 (23.9%) with Fragile X testing (FRGX). Twelve (10.9%) CMA findings were reported, of which seven (6.3%) were felt to be the likely cause of the child’s clinical features. Five (3.5%) KT findings were reported, of which four (2.9%) were felt to be the likely cause of the child’s clinical features. Two patients (1.2%) were identified with Fragile X expansions. One fifth of the clinic’s recent PDD population had undergone testing with CMA. CMA appears to have increased the diagnostic yield of the genetic investigation of autism, in line with internationally reported levels. Number needed to test (NNT) and cost per incremental diagnosis, were also in line with internationally reported levels.

show abstract

Section: Introductionmentioning

confidence: 99%

Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic

et al. 2014

View full text Add to dashboard Cite

show abstract

“…Etiologically, ID can result from genetic abnormalities, environmental exposures, or a combination of both, with conditions like Down syndrome, Fragile X syndrome, and fetal alcohol syndrome being among the common causes [10] . Advances in genetic testing, including karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA), have enhanced the ability to diagnose and understand the genetic underpinnings of ID and developmental delays [11] . Psychological assessments for children with ID focus on a holistic evaluation of cognitive abilities, adaptive skills, and emotional well-being, rather than relying solely on IQ scores [12] .…”

Section: Introductionmentioning

confidence: 99%

“…shows that the majority(11 cases, 10 cases, and 8 cases) were with chromosomal abnormalities [dup (22) (22q 11.2)], [del (5) (p15.1-p 15.2)], and [Fragile X syndrome]. Other less frequent karyotypes were all listed in detail.…”

mentioning

confidence: 99%

Karyotype and molecular cytogenetic analysis among sample of Iraqi children with idiopathic intellectual disability

Nasif,

Shareef

2024

Int. J. Paediatrics Geriatrics

View full text Add to dashboard Cite

Background: Most children with uncertain etiology have moderate ID, which accounts for 48.8% of all intellectual impairments. Genetic testing allows early etiologic diagnosis, medical comorbidity monitoring, and genetic counselling for families. Aim of the study:To study the clinical features of Intellectual disabilities, determine the yield of karyotyping in children with idiopathic intellectual disability. Patients and Methods: A retrospective and prospective observational study were conducted on seventy-two Pediatric patients with intellectual disabilities who visited child welfare teaching hospital outpatient clinic for Pediatric neurological diseases. The data records were collected from the beginning of January 2018 to the end of July 2022, children aged 5 up to 14 years who were diagnosed clinically to have intellectual disability were included. Raven's IQ test, Brain MRI were performed in all patients with intellectual disability. GTG banding karyotype, florescence in situ hybridization and PCR were the materials used. Results:The male-to-female ratio was ≈ (4:1). Speech difficulty and Behavioral abnormalities were significantly higher among males (P=0.042), (P=0.017) respectively. The majority of children were with normal MRI 45 (62.5%), while the highest proportion of abnormal MRI findings was brain atrophy reported in 16 (22.2%) of cases. Epilepsy was among only 22 (30.6%). Conclusion:In this study, Individuals with intellectual disabilities including speech delays and/or learning disabilities, with or without behavior problems, are more likely to have chromosome abnormalities, in form of deletion, duplication, and fragile X, and particularly del (22) (22q 11.2)], [del (5) (p15.1-p 15.2)..Most of the cases with duplication had mild levels of intellectual disability and positive history of parental consanguinity.

show abstract

“…

Clinical genetic testing, including high-resolution array comparative genomic hybridization (array CGH) or chromosomal microarray (CMA), has been suggested as a standard practice for children with diagnosis including unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCA). 2,7,10

…”

mentioning

confidence: 99%

Application of array comparative genomic hybridization in clinical diagnostics of intellectual disability/developmental delay in children

Uppal,

Rana,

Polipalli

et al. 2023

Int J Contemp Pediatr

View full text Add to dashboard Cite

Background: This study was designed to analyze and evaluate the potential pathogenic genomic imbalance in children with unexplained intellectual disability (ID) and/or developmental delay (DD) and its association with phenotypes, and to investigate the value of array-based comparative genomic hybridization (array-CGH). Methods: A total of 72 Children with ID/DD were evaluated by array-CGH for detection of genomic copy number variations (CNVs). Results: The results of the array-CGH revealed that 10(14%) of the 72 patients had pathogenic CNVs, in that six cases had pathogenic CNV in a single chromosome, 2 cases had multiple microdeletions and 2 cases had combined microdeletion and microduplication, 2 cases had pathogenic CNVs in chromosome 1p36 and Xq28 region. One case had variation of unknown significance in chromosome region 15q11.2. Large bands of copy neutral loss of heterozygosity were detected in 2 cases comprising more than 10% of genome. Conclusions: Array-CGH being a high-throughput and rapid tool, allows for the etiological diagnosis in some of the children with unexplained ID/DD.

show abstract

A ’global’ approach to global developmental delay and intellectual disability?

Cited by 9 publications

References 7 publications

Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic

Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic

Karyotype and molecular cytogenetic analysis among sample of Iraqi children with idiopathic intellectual disability

Application of array comparative genomic hybridization in clinical diagnostics of intellectual disability/developmental delay in children

Contact Info

Product

Resources

About