Mental Retardation and Co-morbid Disorders

CENTER SITE
Mentally retarded individuals ten to develop additional mental illness diagnoses at
three to four times at the rate of the normal population. When more than one
disorder is diagnosed at a time, the set of diagnoses are known as co-morbid
disorders.

Mentally retarded individuals are prone to Attention Deficit Hyperactivity

Disorder, or ADHD. While ADHD is diagnosed in 8-15 percent of the general
population of children, between 17 and 52 persons of adults with mental
retardation may qualify for the diagnosis. The range provided here is large because
studies disagree on the prevalence of ADHD with in the mentally retarded
population. ADHD is difficult to detect amidst the other prominent symptom of
mental retardation.

ADHD has behavioral characteristics that include inattention, impulsivity, and

fidgeting. The incidence of co-morbid depression in the mentally retarded
population is difficult to determine with precision, as mentally retarded individuals
have difficulty communicating their moods during evaluation. Depression is
possible for mentally retarded individuals starting at any age of life. Children may
become depressed upon realizing that they are different from their peers and
unable to keep up. Depression may manifest itself in adolescents and adults
through disturbance in sleep and eating routines, social withdrawal, and
anxiousness. Bipolar disorder, another mood disorder, is between two and three
times more frequent in the mentally retarded population than the regular
population.
Mentally retarded individuals and individuals with pervasive Development
Disorder alike often develop Stereotypic Movement Disorders, which involve
unnecessary repetitive movements that interfere with everyday functioning. The
movements may take on a self-injurious form and restraints may be required at
times to keep affected individuals from hurting themselves.

DEMENTIA
Typically refers to gradual degeneration of mental function that interferes with
every day functioning. Memory loss is significant and affected individuals often
misplace objects, lose track of conversations, get lost while driving, or have
difficulty completing tasks. Dementia may be a result of a medical condition or
head trauma. Typically, individuals who have mental retardation do not have a
heightened incidence of dementia later in life; however, Alzheimer’s disease is
common among middle-aged individuals with Down syndrome. Alzheimer’s
disease occurs with greater frequency and at a far earlier age than normal with in
the Down population. Down patients who develop Alzheimer’s disease typically
pas away with in ten years of their diagnosis. Traumatic brain injury, such as may
occur due to a fall or car accident, can lead to a diagnosis of mental retardation if
the injury occur prior to the age of eighteen or to a diagnosis of dementia if it
occurs after age eighteen.

SCHIZOPHRENIA is estimated to be present in about 3 percent of individuals

with mental retardation, most of whom go undiagnosed. This is in comparison to a
rate of 0.8 percent with in the general population.

DOWN SYNDROME
Down syndrome or trisomy 21 (British Down’s syndrome) is a genetic condition
resulting from the presence of all or par of an extra 21st chromosome. Down
syndrome is characterized by a combination of major and minor abnormalities of
body structure and function. Among features present in nearly all cases are
impairment of learning and physical growth, and a recognizable facial appearance
usually identified at birth. It is named after John Langdon Down, the British
doctor who first described it in 1866.

Individuals with Down syndrome have lower than average cognitive ability,
normally ranging from mild to moderate retardation. Some individuals may have
low intelligence overall, but will generally have some amount of developmental
disability, such as a tendency toward concrete thinking or naivete. There is also a
small number of individuals with Down syndrome with severe to profound mental
retardation. The incidence of Down syndrome is estimated at 1 per 800 to 1 per
1000 births.

The common physical features of Down’s syndrome also appear in people with a
standard set of chromosomes. They include a simian crease (a single crease across
one or both palms), almond shaped eyes, shorter limbs, speech impairment, and
protruding tongue. Health concerns for individuals with Down syndrome include a
higher risk for congenital heart defects, gastro-esophageal reflux disease, recurrent
ear infections, obstructive sleep apnea, and thyroid dysfunctions.

Early childhood intervention, screening for common problems, medical treatment

where indicated, a conductive family environment, and vocational training can
improve the overall development of children with Down syndrome. While some of
the genetic limitations of Down syndrome cannot be overcome, education and
proper care, initiated at any time, can improve quality of life.

Characteristics of Down syndrome

Example with Down syndrome may have some or all of the following physical
characteristics: oblige eye fissures with small skin folds on the inner corner of the
eyes, muscle hypotonia, a flat nasal bridge, a single palmar fold (simian crease), a
protruding tongue (due to small oral cavity, poor muscle tone, and an enlarged
tongue near the tonsils), a short neck, white spots on the iris known as Brush-field
spots, excessive flexibility in joints, congenital heart defects, excessive space
between large and second toe, and a single flexion furrow of the fifth finger. Most
individuals with Down syndrome have mental retardation n the mild (IQ 50-70) to
moderate range (IQ 35-50), with scores for children with Mosaic Down syndrome
(explained below) some 10-30 points higher. In addition, individuals with Down
syndrome can have serious abnormalities affecting any body system.

GENETICS
Down syndrome is a chromosomal abnormality characterized by the presence of
an extra copy of genetic material on the 21st chromosome, either in whole (trisomy
21) or part (such as due to translocations). The effects of the extra copy vary
greatly from individual to individual, depending on the extent of the extra copy,
genetic background, environmental factors, and random chance. Down syndrome
occurs in all human populations and analogous effects have been found in other
species such as chimpanzees and mice. Recently, researches have been able to
create transgenic mice with most of human chromosome 21 (in addition to the
normal mouse chromosome). People with Down syndrome often have a simian
crease on the palmar surface of the hand. The extra chromosomal material can
come about in several distinct ways. A normal human karyotype is designated as
46,XX or 46,XY, indicating 46 chromosomes with an XX arrangement for females
and 46 chromosomes with an XY arrangement for males.

TRISOMY21
Trisomy 21 (47,XX+21) is caused a meiotic non-disjunction event. With non-
disjunction, a gamete (i.e., a sperm or egg sell) is produced with an extra copy of
chromosome 21; the gamete thus has 224 chromosomes. When combined with a
normal gamete from the other parent, the embryo now has 47 chromosomes, with
three copy of chromosome 21. Trisomy 21 is the cause of approximately 95% of
observed down syndromes, with 88% coming from the non-disjunction in the
maternal gamete and 8% coming from non-disjunction in the parental gamete.

MOSAICISM
Trisomy 21 is generally caused before the conception, and all cells in the body
affected. However, when some of the cells in the body are normal and other cells
have trisomy 21, it is called Mosaic Down Syndrome (46,XX/47,XX+21). This
can occur in one of two ways: a non-disjunction event during an early cell division
in a normal embryo leads to a fraction of the cells with trisomy 21; or a Down
syndrome embryo undergoes non-disjunction and some of the cells in the embryo
never revert back to the normal chromosomal arrangement. There is considerable
variability in the fraction of trisomy 21, both as a whole and among tissues. Thos
is the cause of 1-2% of the observed Down syndromes. There is evidence that
mosaic Down syndrome may produce less developmental delay, on average than
fully trisomy 21.

ROBERTSONIAN TRANSLOCATION
The extra chromosome 21 material that causes Down syndrome may be due to a
Robertsonian translocation. In this case, the long arm of chromosome 21 is
attached to another chromosome, often chromosome 14 (45,XX,t(14;21q)) or itself
(called an isochromosome, 45,XX,t(21q;21q)). Normal disjunction leading to
gametes has a significant chance of creating a gamete with an extra chromosome
21. Translocation Down syndrome is often referred to as familial Down syndrome.
It is cause of 2-3% of observed cases of Down syndrome. It does not show the
mental age effect, and is just as likely to have come from fathers as mothers.
DUPLICATION OF PORTION OF CHROMOSOME 21
Rarely, a region of chromosome 21 will undergo a duplication event. This will
lead to extra copies of some, but not all, of the genes on chromosome 21
(46,XX,dup(21q)). If the duplicated region has genes that are responsible for
Down syndrome physical and mental characteristics, such individuals will show
those characteristics. This cause is very rare and no rate estimates are possible.

PARENTAL SCREENING
Pregnant woman can be screened for various complications in their pregnancy, or
due to risk factors such as advanced maternal age. There are several common non-
invasive screens, each has a significant chance of suggesting a fetus with Down
syndrome when, in fact, the fetus does not have this genetic abnormality. Such
results are called false positives. Screens positives must be verified before a Down
syndrome diagnosis is made.