Intellectual disability in Indian children: experience with a stratified approach for etiological diagnosis

Jain, Silky; Chowdhury, Veena; Juneja, Monica; Kabra, Madhulika; Pandey, SS; Singh, Ankur; Bhattacharya, Maitreyee; Kapoor, Seema

doi:10.1007/s13312-013-0306-7

Cited by 23 publications

(13 citation statements)

References 21 publications

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“…Some Indian studies by Jain et al, Tikaria et al, and Sachdeva et al, found birth asphyxia in 9.8%, 20%, and 9% of children enrolled in their studies respectively which are lower than our study. 7,8,11 Thomaidis at al, found birth asphyxia in 18 (12.6%) out of 142 children and Koul et al, found 26 (23.63%) children with the above etiology. 6,12,18 The high incidence of birth asphyxia in our study could be due to perinatal and/or obstetric complications and also due to inclusion of only the inpatient children.…”

Section: Birth Asphyxiamentioning

confidence: 98%

Study of perinatal factors in children with developmental delay

Charan

Vagha

2016

Int J Contemp Pediatr

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Background: Birth history gives important information in children with developmental delay. Developmental challenge in children is an emerging problem across the globe, which is largely associated with improved neonatal survival. The present study highlights the importance of birth history in children with developmental delay in our hospital. The objective of this study was to study the perinatal events in children with developmental delay.Methods: Observational descriptive study was conducted on children between 6 months to 5 years who were admitted in Pediatric wards with suspected history of developmental delay. DDST II scale was performed on these children and children who failed on Denver II scale were recruited into the study. Birth history was noted in detail, if available, documentation of birth events was asked for and noted. Developmental history with developmental quotient (DQ), were noted in detail.Results: 135 children had developmental delay, 113 (83.70%) were born by vaginal delivery and 22 (16.30%) were born by caesarian section, 46 (34.18%) had no cry at birth and remaining 89 (65.92%) had normal cry at birth. 104 (77.04%) were born by term gestation and 31 (22.96%) were born preterm. Birth weight was normal in 78 (57.7%) children, LBW was seen 47 (34.81%) and 5 children each with VLBW and ELBW and 35 (25.93%) were IUGR. On comparing the children born gestational age and birth body weight with all four domains, there was no significant difference.Conclusions: Global developmental delay was more common in children born at preterm, low birth weight, IUGR and children who had birth asphyxia. Birth weight and gestational age did not significantly affect any particular domain of development.

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Section: Birth Asphyxiamentioning

confidence: 98%

Study of perinatal factors in children with developmental delay

Charan

Vagha

2016

Int J Contemp Pediatr

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“…Both shoulders could not be approximated to midline either actively or passively, suggesting the presence of normally developed clavicles. Assessment of IQ was performed using the Binet Kulshreshtha test and suggested normal intelligence [Jain et al, 2013].…”

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confidence: 99%

Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases

Singh

Goswami²,

Pradhan³

et al. 2015

Mol Syndromol

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We report an unusual combination of features comprising delayed tooth eruption and closure of the anterior fontanel as the sole presenting features in a child with cleidocranial dysplasia (CCD). Radiological survey revealed the presence of wormian bones in the skull, pseudoepiphysis at the base of the bilateral second metacarpal, and midline ossification defects at pubic symphysis in the presence of essentially normal clavicles. DNA sequencing of the RUNX2 gene detected a novel nonsense mutation in exon1 (c.166C>T; p.Q56X) in its glutamine-alanine (Q/A) repeat domain. The genotypes of all published cases of CCD with normal clavicles were reviewed. Additional dental and otolaryngological features were enlisted. Three cases with a milder dental phenotype and normal clavicles were associated with a mutation in the Q/A domain. Collectively, we found a novel CCD-causing nonsense mutation p.Q56X in the Q/A domain of the RUNX2 gene.

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“…Peri-natal acquired causes have been associated with intellectual disability in 20% of cases in some studies to 54% in another. 11,12 As primary prevention is the main stay of management, focusing on each of these factors is and providing adequate treatment is important.…”

Section: Discussionmentioning

confidence: 99%

Profile of patients with intellectual disability visiting a tertiary care center in western India

et al. 2014

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Mental Retardation occurs in 2-3% of general population and is one of the most common disorders among children. Traditionally IQ testing is considered to be the standard assessment procedure for patients with Intellectual Disability. 1-3 Unfortunate neuropsychological aspect of mental retardation has not received enough attention despite its importance. Associated handicaps in hearing, vision, motor skills, language impairment, behavioral disturbances, inadequate motivation, and cultural deprivation may adversely influence the outcome on an intelligence test. If these factors are not taken into consideration, the general level of a child's abilities may either be under or overestimated. 4 The etiologies of mental retardation are multiple, and its prevalence can also be influenced by social, economic, cultural, racial/ethnic, and other environmental factors including the demographics of age and gender. 5,6 Clinically low IQ level is commonly seen as a part of a syndrome or found co-morbid with variety of other childhood medical and psychiatric disorders. Assessment of intellectual disability should not be merely by IQ assessment but include comprehensive assessment of psychological factors, diverse co-morbid conditions and deficits. There is a dearth of studies focusing on these issues from India and so this study was planned to determine the profile of patients with intellectual disability by focusing ABSTRACT Background: Intellectual disability is commonly associated with variety of etio-pathological and co-morbid conditions influencing outcome of rehabilitative measures. Understanding of these factors helps in better management of disabled condition. Methods: A qualitative retrospective case record review, of patients with intellectual disability, visiting psychiatry department of a tertiary care hospital, within a period of one year, was conducted to assess their epidemiological and clinical profile. Results: Patients with Intellectual disability are brought to the hospital at all ages and commonly by their parents. Etiologically related various perinatal factors (delayed birth cry and seizures being most common) as well as childhood medical conditions (epilepsy and recurrent respiratory/GI infections being most common) were commonly found in these patients. Milestones are delayed in almost 60-70% of cases whereas various physical and psychiatric conditions commonly co-existed with disability. Conclusion: Clinical profile of these patients demands a comprehensive evaluation and management apart from routine IQ assessment.

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Intellectual disability in Indian children: experience with a stratified approach for etiological diagnosis

Abstract: It is possible to ascertain the diagnosis in most of the cases of intellectual disability using a judicious and sequential battery of tests.

Cited by 23 publications

References 21 publications

Study of perinatal factors in children with developmental delay

Study of perinatal factors in children with developmental delay

Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases

Profile of patients with intellectual disability visiting a tertiary care center in western India

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