Early Intervention for Mentally Disabled Children Due to Genetic Etiology Research Paper

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Intervention for Mentally Disabled Children Due to Genetic Etiology

The objective of the study is to study degrees of response to early intervention among intellectually disabled children due to different genetic etiologies and estimating a possible underlying molecular genetics that could serve to modulate the degree of response to early intervention among children of different genetic causes and children of the same genetic cause.


The study reported herein is inclusive of 100 cases involving individuals with mental disabilities due to different genetic causes including those of Down syndrome, Prader-Willi syndrome & Silver-Russell Syndrome in addition to controls matched for age (6M-4Y) and sex.


Each case was subjected to: (1) comprehensive history including family history and specifically maternal and paternal ages at birth in each case, similar conditions in the family, jobs and exposure to drugs or x-rays; (2) pedigree construction and analysis; (3) evaluation of social status of the family whether it be high-, middle-, or low-socioeconomic status; (3) clinical examination of all body systems with special emphasis on any anomaly; (4) investigations according to each individual case including such as echocardiography, hearing tests (ABR), fundus examination, brain C-T scan, EEG, as well as others; (5) early intervention; and (6) preliminary (pre-test) evaluation of developmental (DA) of all developmental fields including infant-stimulation, cognition, motor, social maturation, and language through use of the Portage developmental charts; and (7) a comprehensive clinic and house-centered Portage program for early intervention and education of the mentally disabled children and their care givers.

Focus of the Study

This program is primarily focused on training of the studied children in their local environment and specifically in the house. The main program idea reverses the emphasis of the mother in the home. This program was implemented in the form of bi-weekly interventional sessions (30-40 minutes for each session) in addition to 3 monthly evaluation sessions. Throughout the early intervention program (2 years), children have been taking brain function stimulants and enhancers in the form of calculated megadoses of multi-vitamins, anti-oxidants, omega 3 polyunsaturated fatty acids, and essential amino acids.

The treatment and care provided to mentally retarded individuals has experienced change and expansion in recent years. Families prior to the 1800s kept children with mental disabilities at home and hidden from the view of the public. After that time state governments built large institutions to house children with mental disabilities and parents were advised by physicians to institutionalize retarded children resulting in few children with mental disabilities having the opportunity to receive education and training.


This study involved thirty cases with mental disability and 30 controls matching for age and sex. The thirty individuals studied were divided into twenty (20) cases with Down Syndrome (DS) and ten cases with Prader-Willi syndrome (PWS). The Down Syndrome cases were further subdivided according to cytogenetic analysis into 3 subgroups as follows:

(1) group1 -- the non-disjunction (regular) DS cases (n-10);

(2) group2 -- translocation DS cases (n=5); and group3 -- mosaic DS cases (n=5).

The ages of all patients ranged from 6 months to five years. Patients were obtained through referral to outpatient clinics of Children with Special Needs Department and Clinical Genetics Department, National Research Centre (N.R.C.) from 2000-2002. Each case was subjected to the following:

(1) comprehensive history taking;

(2) pedigree construction and analysis;

(3) evaluation of social status of the family;

(4) clinical examination of all body systems;

(5) investigations according to individual case; and (6) laboratory investigations.


Prader-Willi cases were subjected to thorough molecular cytogenetic diagnostic approach such as: FISH using SNRPN or other probe in the common deletion region, along with a centromeric probe, and methylation analysis would detect both UPD and imprinting mutations. Diagnosed cases were subjected to:

(1) preliminary (pre-test) evaluation of developmental age (DA) of all developmental fields (i.e. infant-stimulation, self-help, cognition, motor, social maturation, and language), using the Portage developmental charts;

(2) a comprehensive clinic and house centered program for early intervention and education of the mentally disabled child and their care givers; and (3) a final (post-test) evaluation of DA of all developmental fields using the Portage developmental charts.

Background to the Study

It is now recognized by experts that children with mild mental retardation are many times able to develop new skills over time through early intervention and educational services resulting in their ability to function normally in life and to no longer warranting a diagnosis of retardation. All individuals except those who are most profoundly retarded can generally develop their full potential through living in the community as most individuals with mental retardation have the capacity for learning enabling them to advance intellectually and to develop job skills as well as social skills enabling them to fully participate in society. Individuals with mild mental retardation marry, have families and are basically unable to be distinguished from normal individuals in society however, if these individuals are to achieve their full potential as children these individuals require special education and training beginning in infancy and continuing until they establish an adult role in life.

Literature Review

The work of Connolly, Morgan, Russell, and Richardson entitled "Early Intervention with Down Syndrome Children" states findings that intervention during infancy in children with DS "has a positive effect upon development of adaptive and intellectual skills in children with Down syndrome. Further, the findings suggest that intervention facilitates acquisition of early developmental skills." (1980, p.1407)

The work of Mahoney and Fewell (2001) reports a field-based investigation of the effects of two motor intervention approaches on children with DS including neurodevelopemtnal treatment and developmental skills. It is reported that motor functioning was examined at the beginning of the study and following 1 year of motor intervention services. Pre-post comparisons indicated that children made significant changes in their motor development age and quality of movement over the course of intervention. However, it is reported that there was no evidence that motor invention accelerated development or improved quality of movement beyond what could be expected on the basis of maturation. In addition, no differential intervention effects were associated either with children's diagnosis or treatment model. The work of Crimbie and Gunn (1998) reports developmental assessments for two cohorts of children with DS and report that cognitive function was strongly associated with adaptive behaviors. Conclusions of the study state that early intervention studies should investigate "social disadvantages and biological impairment not only as separate issues but as a combination of the two." The work of Hines and Bennett (1996) states that positive changes were noted in a study of the development of children with DS who were exposed to early intervention programs. Connolly, Morgan, Russell and Fulliton (1993) report that the long-term motor, cognitive and adaptive functioning of a sampling of adolescents with Down Syndrome who were involved in an early intervention program when compared to a group who did not experience an early intervention program showed that the group that had experienced the intervention program "had significantly higher scores on measures of intellectual and adaptive functioning than did the children in the comparison group. The EI group subjects did not show the decline typically seen with age in adaptive functioning in individuals with Down syndrome. The work of Fewell and Owelwein (1991) reports a study involving preschool children with DS who were enrolled in the Model Preschool Program for Children and state findings that there were significantly higher rates of development during interventions than when the children entered the program. Gibson and Harris (1988) report pooled findings from 21 early intervention demonstration studies for Down's syndrome infants and children "…yield consistency of short-term benefits in the growth of finer motor skills, simple social repertoire and DQ/IQ scores, but conflicting evidence in support or not of benefits in the gross motor, linguistic and cognitive/academic domains. Support for the tenacity of gains, on follow-up to the early years of primary schooling, is disappointing. It is recommended that: (1) intervention programmers view the key working assumptions and ideological positions governing present practices more critically; (2) intervention curricula reflect the unique biological and behavioral properties of the syndrome, taking into account individual differences which are independent of etiological label; and (3) care delivery systems be based more fully on multidisciplinary collaboration, especially between the health sciences and education fields." The work of Connolly, Morgan and Russell (1984) report having examined the long-term effects of an early intervention program on the motor, cognitive and adaptive functioning of children with Down syndrome. The study compared the group of children with a group of DS children who did not participate in an early intervention program. The children were assessed and findings show that children in the early intervention program "…earned significantly higher scores (p less than .0005, p less than .05) on the measures of intellectual and adaptive functioning than did the children of comparable age who did not participate in an EIP. The children in the EIP did not show the decline typically seen with age in intellectual and adaptive functioning in children with Down syndrome. The…

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