Jai Vakeel Foundation

Research Links

Here are some summaries of various reports written by the medical faculty of the Research Society. They have appeared in various national & international journals.

Trisomy 18 in a 50-year-old female
Title of the Paper Trisomy 18 in a 50-year-old female
Authors Dr. Bhanumathi B,Dr. Z. Mishra, Dr. N. Goyel
Name of the Journal Indian Journal of Human Genetics.
Status Published in Volume: 12;Issue: 3; Year: 2006;Page No: 146-147
Summary She was brought to our institute at the age of 31, with speech delay and mental handicap. She was assessed by the multidisciplinary team in the institute to determine the cause of her problems. Clinical evaluation revealed dysmorphic facial features, microbrachycephaly, camptodactyly,clinodactyly,abnormal dermatoglyphics, and severe mental handicap. Cardiovascular system examination was normal. Chromosomal analysis revealed a trisomy of chromosome 18. The phenotype of trisomy 18 and the rarity of prolonged survival in this case are discussed.
Inborn Errors of Metabolism In Children with Mental Handicap
Title of the Paper Inborn Errors of Metabolism In Children with Mental Handicap
Authors Chetna Bhatt, Dr. Z. Mishra, Dr. N. Goyel
Name of the Journal Indian Journal of Clinical Biochemistry
Status Published in the Indian Journal of Clinical Biochemistry; Vol.23; No: 1; January 2008. Pg. No:10-16
Summary Mental Retardation is a condition where complex interactions of intrinsic and extrinsic factors hamper mental and sometimes physical growth of the child during developmental period. This study was carried out to detect cause of Mental Retardation in 2000 cases of developmental delay by a multidisciplinary team comprising of a Pediatrician, Cytogeneticist, Biochemist, Psychologist and Speech and Occupational therapists. The causes for developmental delay are broadly divided into Genetic, Environmental and Idiopathic (no specific cause found) factors. The complete diagnosis was possible in 1192(60%) cases. Genetic factors were found in 477(23.8%) cases and environmental factors covered 692(34.6%) cases as a cause of retardation. The most common genetic cause is chromosomal abnormalities which were found in 355 (17.75%) cases; another major group comprising of 122 (6.1%) cases was that of the disorders which follow Mendelian inheritance. Autosomal recessive (AR) conditions, which covers majority of metabolic disorders, are detected in 48(2.4%) cases. During this screening the most common inherited metabolic condition detected is Mucopolysaccharidosis- a Lysosomal Storage Disorder followed by Amino acid abnormalities like Phenylketonuria, Alkaptonuria and Tyrosinuria.
Efficacy of Involving Parents as Co-trainers in the Learning Readiness
      Programme for young children with severe and profound grade of mental
      retardation and multiple Handicap.
Title of the Paper Efficacy of Involving Parents as Co-trainers in the Learning Readiness Programme for young children with severe and profound grade of mental retardation and multiple Handicap.
Authors Mr. D. Kurani, Mr. D. Prabhulkar, Ms. L. Miranda, Ms. F. Jawadwala Ms. A. Nerurkar
Status Journal of Intellectual Disabilities, vol 13(4) 269-289, October 2009
Summary Cognitive, social, motor and language skills are key factors that contribute to the quality of life for people with learning disabilities and for their carers. Development of these skills for children with severe learning disabilities who have other complex needs however remains a challenge. A pilot study was undertaken by the staff from The Jai Vakeel School for Children in Need of Special Care, Mumbai, with a view to examining the effects of training offered by parents of children with severe learning disabilities and complex needs on their emotional, social, language, cognitive and motor skill development. Using a Parental Involvement/Engagement Scale it was seen that children with lower parental involvement had less improvement in the above areas whilst children with higher parental involvement showed greater improvement. The findings are discussed in relation to the hypothesis that the pre-clinical condition of the child will affect the outcome of therapy.
Genetic Studies in Children with Mental Handicap and Autistic Spectrum of
      Disorders
Title of the Paper Genetic Studies in Children with Mental Handicap and Autistic Spectrum of Disorders
Authors Bhanumathi B., Chetna Bhatt, Neelam Goyel
Status Indian Journal of Human Genetics, September-December 2009 Vol 15, Issue 3
Summary Autism is one of the five disorders that falls under the umbrella of Pervasive Developmental Disorders (PDD) or Autism Spectrum Disorder (ASD), a category of neurological disorders characterized by “severe and pervasive impairment in several areas of development” ASD is characterized by varying degree of impairment in communication skills, social interaction and restricted repetitive stereotyped patterns of behavior. The five disorders under PDD are autistic disorder, Asperger’s disorder, childhood disintegrative disorder, Rett’s Disorder and PDD-not otherwise specified. AD can often be reliably detected by the age of 3 years and in some cases as early as s 18 months. The appearance of any warning signs of ASD is reason to have the child evaluated by a professional specializing in these disorders.















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