Down syndrome: characteristics, causes, and clinical management

Down Syndrome

The work of Meier (2008) states that each year approximately, "...5000 children are born with Down syndrome." Down syndrome is also known as Trisomy 21. Down syndrome is a genetic disorder "in which the person has an extra chromosome, 47 instead of the usual 46." (Meier, 2008) the extra chromosome results in "a variety of expressions including the flattened profile, some health issues, and mental retardation, usually only mild or moderate in degree." (Meier, 2008) the chances of having a baby with Down syndrome is stated to increase with the age of the woman however, it is stated that more than eighty percent of children born with this disorder are born to women less than thirty-five years of age. (Meier, 2008; paraphrased)

CAUSE of the DISORDER

The work of Leshin (2003) entitled: "Trisomy 21: The Story of Down Syndrome" relates that a physician by the name of John Langdon Down "published as essay in England in which he described a set of children with common features who were distinct from other children with mental retardation..." In 1866. Down is stated to have been the "superintendent of an asylum for children with mental retardation in Surrey, England" at the time the first distinction was made between children "who were cretins (later to be found to have hypothyroidism) and what he referred to as Mongoloids." (Leshin, 2003) in the early years of the twentieth century, much speculation occurred relating to the cause of this syndrome. In 1959 Jerome Lejeune and Patricia Jacobs made the determination that the cause of Down Syndrome was 'trisomy' or "triplication of the 21st chromosome." (Leshin, 2003)

II. STRATEGIES for COPING WITH THIS DISORDER

The work of Margaret B. Pulsifer (2005) entitled: "Cognitive Development and the Psychological Evaluation" states that children with Down Syndrome "are frequently given a psychological evaluation as part of their multidisciplinary assessment." A psychological assessment is important because it is used to: (1) identify the child's strengths and weaknesses; (2) determine the best intervention; (2) monitor the progress of the child and the treatment effectiveness; and (4) give parents insight about the child's abilities. (Pulsifer, 2005) Testing that is used for cognitive development or intelligence measures for children with Down syndrome include the following:

1) Bayley Scales of Infant Development (Mental Scale)

2) Stanford-Binet Intelligence Scale: Fourth Edition;

3) Wechsler Preschool and Primary Scales of Intelligence - Revised (WPPSI-R); and 5) Wechsler Intelligence for Children - III (WISC-III) (Pulsifer, 2005)

Tests that are utilized to assess the specific verbal skills include those as follows:

1) the Expressive One-Word Picture Vocabulary Test;

2) the Peabody Picture Vocabulary Test; and 3) the Receptive-Expressive Emergent Language Scale (REEL). (Pulsifer, 2005)

Adaptive skills testing is generally accomplished with the 'Vineland Adaptive Behavior Scales' while the assessment of temperament and behavioral style is generally accomplished with 'The Carey Infant Temperament Questionnaire' and the 'Toddler Temperament Questionnaire'. (Pulsifer, 2005) After the child has been psychologically evaluated, "the psychologist is able to provide information to parents and professionals to assist them in obtaining appropriate services." (Pulsifer, 2005) the psychologist generally makes one of four recommendations including:

1) Special education placement;

2) Specific services including speech and language therapy;

3) Behavior management at school/home; and 4) Referral to community services for parent support. (Pulsifer, 2005)

ACADEMIC STRENGTHS and WEAKNESSES

Meier (2008) states that there is a tendency to over generalize those with Down syndrome but states that there are however "significant trends that teachers can use to help their students learn and become part of the classroom." Meier states the following strengths and weaknesses of students with Down syndrome related to academics:

Learning Strengths

Strong, short-term visual memory

High social/interpersonal intelligence (Meier, 2008)

Learning Weaknesses

Poor short-term auditory memory

Difficulty with basic math skills

Mild to moderate hearing loss (Meier, 2008)

The work of Fox, Farell and Davis (2004) entitled: "Factors Associated with the Effective Inclusion of Primary-Aged Pupils with Down's Syndrome" reports a study that states findings that effective academic support for children with Down syndrome includes:

1) Schools in which knowledge of the needs of the student with Down syndrome was shared among all staff members;

2) Schools in which teachers and teaching assistants worked in unison to provide appropriate support for these students; and 3) Schools had the necessary support to allow students with Down syndrome to share class-based activities with their peers. (Fox, Farell, and Davis, 2004)