Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.

@article{Curry1997EvaluationOM,
  title={Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.},
  author={Cynthia J. R. Curry and Roger E. Stevenson and David J. Aughton and Janice L. B. Byrne and John C. Carey and Suzanne B. Cassidy and Christopher M Cunniff and John M Graham and M. C. Jones and Michael M. Kaback and John B. Moeschler and Gerald Bradley Schaefer and S Schwartz and Jack C Tarleton and John M Opitz},
  journal={American journal of medical genetics},
  year={1997},
  volume={72 4},
  pages={
          468-77
        }
}
A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with mental retardation. Although no uniform protocol replaces individual clinician judgement, the consensus recommendations were as follows: 1. The individual with mental retardation, the family, and medical care providers benefit from a focused clinical and laboratory evaluation aimed at establishing… 
Outcome of the routine assessment of patients with mental retardation in a genetics clinic.
  • A. Hunter
  • Medicine
    American journal of medical genetics
  • 2000
TLDR
Results showed that use of the laboratory was inconsistent and not clearly based on the findings in a particular child and significant changes in patterns of referral and the evaluation process could be made that would result in significant economies of time and laboratory use and a minimum level of missed diagnoses.
Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry.
TLDR
A retrospective analysis of the diagnostic yield of 120 consecutive patients observed at the Stella Maris Institute, confirming the diagnostic utility of cytogenetic/molecular genetic, and neuroimaging studies and suggesting the usefulness of accurate electroencephalogram recordings, suggests the importance of a thorough physical examination.
Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays
TLDR
This report addresses the diagnostic importance of clinical history, 3-generation family history, dysmorphologic examination, neurologic examination, chromosome analysis, fragile X molecular genetic testing, fluorescence in situ hybridization studies for subtelomere chromosome rearrangements, molecular Genetic testing for typical and atypical presentations of known syndromes, computed tomography and/or magnetic resonance brain imaging, and targeted studies for metabolic disorders.
American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
TLDR
This document reviews available evidence concerning the value of conventional and molecular cytogenetic testing for the identification of chromosomal anomalies that play a role in the etiology of MR/DD, and, based on this evidence, specific recommendations for each method of testing are provided.
Mental retardation: overview and diagnosis.
1. William Otis Walker Jr, MD* 2. Chris Plauche Johnson, MEd, MD† 1. *Director, Neurodevelopmental/Birth Defects Clinics, Children’s Hospital and Regional Medical Center, The University of
Genetic evaluation of intellectual disabilities.
Diagnostic evaluation of developmental delay/mental retardation: An overview
  • A. Battaglia, J. C. Carey
  • Medicine, Biology
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2003
TLDR
This review will focus on the most appropriate investigations shown to be, at present, necessary to define the etiology of DD/MR, in the context of recommendations for the clinical evaluation of the patient with undiagnosed MR.
[Genetic screening to determine an etiologic diagnosis in children with mental retardation].
TLDR
Screening for inborn errors of metabolism in children with intellectual disability should be done always to establish an etiological diagnosis.
[Diagnostic investigations for an unexplained developmental disability].
...
...

References

SHOWING 1-10 OF 51 REFERENCES
Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina.
TLDR
It was found that the craniofacial traits of long face, midface hypoplasia, large jaw and simple pinnae were found less frequently in black fra(X) positive males and in prepubertal boys of both races.
Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology.
TLDR
A wide range of disorders were found to be associated with mental retardation, and prenatal factors were implicated about twice as often as peri- or postnatal factors.
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.
TLDR
This study demonstrates that direct DNA diagnosis establishes the genotype at the FRAXA-FMR-1 locus, and validate the use of direct DNA testing for fragile X diagnosis as well as for carrier identification and support and complete the established relationships among the DNA results and the cytogenetic, physical, and psychological aspects of the disease.
The recurrence risks for mild idiopathic mental retardation.
TLDR
A genetic study of children attending ESN(M) schools in Coventry has shown a recurrence risk of idiopathic mental retardation in sibs lying between 1 in 4 and 1 in 5, suggesting that they had a different distribution of intelligence from non-Asian families.
Preventable fraction of mental retardation: analysis based on individuals with severe mental retardation.
TLDR
An analysis to determine the fraction of severe mental retardation that could be prevented with strategies currently available indicates that the goal will not be met and increased diagnostic capability-clinical and laboratory-must be dramatically increased.
Chromosomal and biochemical screening on mentally retarded school children in Taiwan
TLDR
An inquiry into the possibility of devising a chromosomal and biochemical screening program and to apply it routinely to all the mentally retarded school children island-wide was the major aim of the present study.
Subtle Anomalies of the Septum Pellucidum and Neurodevelopmental Deficits
TLDR
A series of studies which identify minor anomalies of septum pellucidum development as subtle markers of cerebral dysgenesis are reviewed, which indicates that 51R1 is certainly superior to either of these techniques.
Evaluation of the child with idiopathic mental retardation.
...
...