Medical Conditions Commonly
Associated with Developmental Disabilities
Cardiovascular Disorders
Communicative Difficulty
Decubitus Formation/Skin Breakdown
Dental Care
Failure to Thrive/Malnutrition
Gastrointestinal Disorders
Hydrocephalus
Orthopedic Disorders
Psychiatric Disorders
Pulmonary Complications
Seizure Disorders
Spasticity
Urinary Tract Disorders
Sexuality and Health
References
Cardiovascular Disorders
Some developmental disabilities may be associated with alterations in
the anatomy and physiology of various organ systems. For example, newborns
with Down syndrome are up to 50% more likely to experience congenital
heart defects-the most common of these being mitral valve prolapse, and/or
atrial or ventricular septal defects (ASD or VSD). It is vital that healthcare
providers be aware of the potential for endocarditis in such individuals.
Patient education concerning prophylactic antibiotic therapy before invasive
procedures-including dental work- is imperative.
top
Communicative Difficulty
Speaking difficulty (dysarthria) is common among persons with certain
developmental disabilities, including cerebral palsy, autism, and mental
retardation. Poor control of the muscles of the lips and tongue may make
speech sound slurred, garbled, or unintelligible. Children with autism
may experience expressive language delay. Some persons may not be able
to speak at all. Children with developmental disabilities should be assessed
early and frequently for speech development and pathology. Referral to
a speech therapist should be made early in order to prevent delay in speech
development. Great emphasis should be placed on facilitating optimal communication.
For individuals with severe communication difficulties, an assistive technology
speech augmentation device may be required. Care must be taken not to
assume retardation in individuals exhibiting dysarthria or aphasia.
top
Decubitus Formation/Skin breakdown
Individuals with developmental disabilities such as cerebral palsy or
spina bifida often experience limited mobility due to spasticity or paralysis.
Spasticity may preclude 'normal' motor function by primary neuromuscular
effects or by resulting contractures. Differing degrees of immobility
may be experienced by a person with cerebral palsy or other disability.
Immobility results in areas of prolonged diminished circulation to the
skin and deeper tissues. Initially these areas present as persistent reddened
patches of skin most frequently located over bony prominences. Without
intervention, these areas often progress to frank necrosis (death) of
affected tissues. An able-bodied individual continually shifts his or
her position in response to discomfort signals generated by the nervous
system. This shifting of weight thereby prevents formation of pressure
ulcers. Conversely, the person experiencing neurological deficits may
not either adequately sense the discomfort nor have the motor control
necessary to shift his or her position in response. In cases where mobility
is significantly restricted, constant attention must be paid to skin integrity
and protection.
Another factor which may exacerbate skin breakdown is bowel and bladder
incontinence. Persons with cerebral palsy and spina bifida often experience
difficulty maintaining bowel and bladder control. Constant irritation
from contact with urine and/or feces may irritate skin in areas where
circulation is frequently already compromised. Hygiene in these areas
is imperative in order to prevent infection from occurring.
top
Dental Care
The child/adult with significant developmental disability often presents
a challenge to caregivers and other providers when attempting to provide
oral hygiene and dental maintenance. Many factors such as hyperactive
oral-motor reflexes (e.g., tongue-thrust, tonic bite), poor oral-motor
function, and excessive salivation (sialorrhea) make oral hygiene difficult
to maintain. Poor bolus formation and/or difficulty swallowing may result
in oral stasis of food. This in turn leads to bacterial colonization of
the oral cavity - and dental caries often result. Oral infections also
produce offensive odors. Individuals using certain anti-seizure medications
may incur overgrowth of the gums (gingival hyperplasia). Additionally,
poor dental occlusion may lead to abnormal wear of tooth enamel. Regular
dental exams should begin by age two years.
top
Failure to Thrive/Malnutrition
Adequate nutrition can be a significant challenge in children and adults
with developmental disability. Infants and children often present with
varying degrees of feeding difficulty and are often underweight for age.
Several factors may lead to malnutrition in the person with cerebral palsy
in particular. Lack of exercise due to diminished mobility may decrease
appetite. Oral-motor dysfunction may limit dietary choices. Gastroesophageal
reflux (GERD) is often present and may result in vomiting and/or severe
esophageal erosion. Individuals affected by oral-motor dysfunction and
GERD are also at risk for aspiration. Assessment of nutritional status
is imperative as some children may require the placement of a gastrostomy
tube to provide adequate intake and promote growth.
Other factors which may influence growth and development in individuals
with disability include alterations in sensory perception (such as in
autism), neuropsychiatric disorders, medical illness, and/or side effects
of medication.
top
Gastrointestinal Disorder
Constipation related to a variety of causes is often a problem in children
and adults with developmental disabilities. Decreased mobility may lead
to diminished appetite, which can result in inadequate roughage in the
diet. Additionally, certain disorders such as cerebral palsy may induce
oral-motor dysfunction, which restricts the amount and type of food consumed.
Gastrointestinal transit time is increased substantially in individuals
with cerebral palsy - resulting potentially in stasis of stool, bloating,
and impaction. Decreased mobility and/or perineal sensation may result
in constipation. Constipation itself causes decreased appetite, thereby
inducing a 'vicious cycle.' Chronic constipation may thus lead to delayed
growth and/or general malnutrition in affected individuals. Gastroesophageal
reflux disease is also common among persons with developmental disabilities.
top
Hydrocephalus
Approximately 85% of infants born with meningomyelocele (a form of spina
bifida) experience hydrocephalus, requiring placement of a ventriculo-peritoneal
shunt. Hydrocephalus is a condition characterized by increased cerebrospinal
fluid (CSF) pressure. This increase in CSF pressure is caused by blockage
to the flow of cerebrospinal fluid within the central nervous system.
Well-infant checks of children at risk should include assessment for symptoms
of increased intracranial pressure (ICP) such as lethargy, irritability,
or nausea and vomiting. Left untreated, increased ICP may progress to
profound lethargy, vomiting, increased blood pressure, lowered heart rate,
brain stem herniation, and death.
A Ventriculo-peritoneal (VP) shunt placement is usually necessary to
lower CSF pressure in infants/children exhibiting clinical hydrocephalus.
A plastic catheter is essentially placed into the ventricle of the brain.
The catheter is brought out beneath the scalp and tunneled under the skin
to the abdomen. The shunt is then inserted into the peritoneal cavity
as a drain for the excess CSF. Placement of a VP shunt is not without
risk. Encephalitis, meningitis, and immune reactions are a concern.
Parents should be educated in the function and observation of a VP shunt,
as well as the signs and symptoms of increased ICP associated with shunt
failure. Health care practitioners should be aware that children with
VP shunts are more likely to experience allergies to latex - containing
supplies. Latex exposure, especially during surgical intervention, may
result in life-threatening anaphylaxis.
top
Orthopedic Disorders
Individuals with cerebral palsy often are affected by musculoskeletal
disorders such as hip subluxation/dislocation, scoliosis, and contractures.
Abnormalities in skeletal muscle tone result in incorrect alignment of
joints and bones. Hip subluxation or frank dislocation may occur in children
with severe cases as early as 2-3 years of age. Careful attention must
be paid during the physical examination to detect the presence of hip
dislocation in order to prevent further deterioration of the hip joint.
Conservative measures such as positioning and physical therapy may be
effective if applied early.
Scoliosis is an abnormal curvature of the spine which may result from
uneven muscle tone and spasticity in the muscles of the back and pelvis.
Greater spasticity in the child/adult with cerebral palsy leads to a greater
chance of earlier and more significant orthopedic problems. Continual
spasticity frequently leads to permanent shortening of the muscle, or
contracture. Contractures in turn result in further misalignment of the
joints.
Contractures are a frequent occurrence in persons with both neurological
and mobility problems. Misalignment of the joints induced by contractures
may result in chronic pain for the person with cerebral palsy. Ambulatory
individuals particularly may experience gait disturbances due to shortening
of the hamstring. The body may be 'frozen' into awkward and uncomfortable
positions which further limit mobility. A thorough examination is required
to assess the presence and extent of contracture. Physical therapy may
be helpful in the initial stages to maintain muscle length. Treatment
is best aimed at prevention; however, often contractures do form and may
require surgical intervention.
Persons with developmental disability also may be more prone to fractures
due to the de-mineralization of bone induced by immobility, as well as
potential propensity for falls. Aggressive or impulsive behaviors may
also lead to injury in individuals with behavioral disturbances.
top
Psychiatric Disorders
It is estimated that persons experiencing developmental disability may
be 3-4 times more likely to experience psychiatric disorders. Affective
disorders, such as depression and ADHD, are the most common. Psychotic
disorders such as Schizophrenia are not commonly found in this population.
An accurate diagnosis will require the practitioner to consider relevant
input from the family - as well as the primary care physician.
top
Pulmonary Complications
Children with cerebral palsy often are affected by asthma, as well as
an increase in primary respiratory disorders. In addition, premature infants
frequently develop respiratory distress syndrome (RDS) at birth related
to immaturity of the lungs. Occasionally a child will continue to need
supplemental oxygen for an extended time. Winter months may be particularly
stressful for the child with asthma due to increased exposure to viral
pathogens. Respiratory viral infections should be monitored closely to
determine the need for clinical support. Children with developmental disability
may also experience decreased pulmonary reserve as a result of obesity
and/or chest wall or spinal deformity.
Upper airway obstruction is a potentially life-threatening condition
which must be guarded against in the individual with symptoms of oral-motor
dysfunction. Difficulty swallowing, (dysphagia) tonal abnormalities of
the lips and tongue, regurgitation, and hyper-reflexive movements are
factors which increase the likelihood of an airway obstruction occurring
during feeding or eating. Additionally, general weakness and incoordination
of the muscles involved in chewing and swallowing often cause problems
with bolus formation that may result in aspiration. In severe cases where
there is substantial risk of choking, alternate feeding routes may be
explored.
top
Seizure Disorders
There is a greater occurrence of seizure disorders in children with cerebral
palsy. Seizure activity refers to chaotic electrical activity in the brain.
This activity usually manifests itself through involuntary movements and/or
alterations in sensation or consciousness. Seizures are categorized by
their degree of involvement of the brain and observed clinical phenomena,
such as loss of consciousness. Seizures may be demonstrated by sensory
phenomena such as altered smell. Autonomic symptoms may also be present
such as sweating, pallor, dilated pupils, or flushing. Hallucinations
and altered sense of time have also been reported.
Seizure activity often accompanies fever in all children. Thus, not all
seizure activity requires medical intervention. Pharmacological management
should remain as conservative as possible with the lowest therapeutic
dose used.
top
Spasticity
Approximately 80 percent of all individuals with cerebral palsy will
have some degree of spasticity. Persons with spina bifida may also experience
spasticity, depending on the presence of paralysis. Spasticity refers
to the muscles' resistance to passive stretch. The muscles of an individual
with cerebral palsy exhibit a lowered threshold in the stretch reflex.
Spasticity is also a primary indicator of upper motor neuron involvement.
Persons with spastic cerebral palsy experience increased muscle tone at
rest. Spasticity is often accompanied by other symptoms, such as ataxia,
(poor balance) incoordination, involuntary movements, primitive reflexes,
paralysis, weakness, and fatigue. The rigidity of muscle fibers is problematic
in that it may induce gait disturbances, oral-motor dysfunction, scoliosis,
contractures, and hip dislocation, as well as chronic pain for the individual
with spastic cerebral palsy.
It is important when examining the individual with neurological disability
to assess the degree of muscle spasticity, as well as any associated symptoms.
Physical therapy, medication, and surgery are potential treatment modalities
which may be used to increase functional abilities and quality of
life.
top
Urinary Tract Disorders
Individuals with developmental disabilities such as cerebral palsy and
spina bifida are at increased risk for the development of several urinary
problems secondary to deficits in neurological function. Alterations in
both sensation and neuromuscular control of voiding often result in symptoms
such as urinary frequency, urgency, incontinence, or urinary retention.
Overactive contraction of the bladder (hyperreflexia) is often present,
causing frequent emptying and resulting small bladder size. Urinary retention
is problematic due to increased risk of infection. Inability to empty
a full bladder allows residual urine to develop overgrowth of bacteria.
In some persons with cerebral palsy, detrusor muscle contraction by the
bladder occurs without urinary sphincter relaxation. When this occurs,
urine from the bladder may be forced backward into the ureters and/or
kidneys. This phenomenon is known as vesicoureteral reflux (VUR) and may
result in dilated ureters and/or kidneys, as well as infection of the
kidney itself (pylelonephritis). Although VUR is not common in children
with cerebral palsy, caution is warranted when assessing urinary function.
top
Sexuality and Health
Historically, sexuality is a topic which has been sorely neglected for
persons with disabilities, particularly developmental disabilities. Children
with developmental disabilities will experience the hormonal effects of
puberty just as their unaffected peers do, but often with added emotional
anxiety. It is very important that all children approaching puberty receive
proper information concerning their sexual health, sexual activity, and
responsibility. Parents are often reticent to provide sexual education
to their children for various reasons. Parents of children with developmental
disabilities often fail to recognize their child as a viable sexual being.
Additionally, the extended caregiving relationship required by some children
with cerebral palsy may cause parents to assume lack of maturation in
this regard. It is important to discuss sexual changes both with parents
and children to address concerns. Girls reaching menarche should receive
regular gynecological exams and may require contraceptives to help regulate
their menstrual cycle.
Adolescents with cerebral palsy and other developmental disabilities
may experience feelings of frustration related to their concept of body
image, peer review, or degree of independence. Although these feelings
may frequently be experienced by all teens, the individual with cerebral
palsy often has a multitude of additional issues to confront. Limitations
in mobility, problems with continence, excessive drooling, and/or physical
effects of spasticity may work to interfere with the development of self-esteem,
which is imperative at this stage. It is important to listen to concerns
voiced by the individual and offer support. Counseling should be suggested
for those experiencing undue anxiety or symptoms of depression.
Many adults with developmental disabilities may never have explored their
own sexuality. Overprotection by parents and/or caregivers may be one
cause. Failure of others to see the individual with significant disability
as having sexual needs is another. Sexuality should be openly discussed
with the individual and encouraged as a healthy part of human life.
top
References
Bakheit, A.M.O., Bower, E., Cosgrove, A., Fox, M.,
Morton, R., Phillips, S., et.al. (2001). Opinion statement on the minimum
acceptable standards of healthcare in cerebral palsy. Disability and
Rehabilitation, 23(13), 578-582
Beckung,
E., & Hagberg, G. (2002). Neuroimpairments, activity limitations,
and participation restrictions in children with cerebral palsy. Developmental
Medicine and Child Neurology, 44, 309-316
Chance,
R.S. (2002). To love and be loved: Sexuality and people with physical
disabilities. Journal of Psychology and Theology, 30(3),
195-208
Chong,
K.F. (2001).Gastrointestinal problems in the handicapped child. Current
Opinions in Pediatrics, 13(5), 441-446
Day, H. (2004). Preventing bone fractures in immobile
children. Pediatric Nursing, 16(2), 1-5.
Delfico, A.J., Dormans, J.P., Craythorne, C.B., &
Templeton, J.J. (1997). Intraoperative anaphylaxis due to allergy to latex
in children who have cerebral palsy: A report of six cases. Developmental
Medicine and Child Neurology, 39, 194-197
DiGiulio, G. (2003). Sexuality and people living with
physical or developmental disabilities: A review of key issues. The
Canadian Journal of Human Sexuality, 12(1), 53-68
Fitzpatrick, L.A. (2004). Pathophysiology of bone loss
in patients receiving anticonvulsant therapy. Epilepsy and Behavior,
5(2), S3-S15
Graham, H.K. (2002). Painful hip dislocation in cerebral
palsy. The Lancet, 359, 907-908
Henderson,
R.C. (2004). Predicting low bone density in children with cerebral palsy.
Developmental Medicine & Child Neurology, 46(6),
416-419
Hockstein,
N.G., Samadi, D.S., Gendron, K., & Handler, S.D. (2004). Sialorrhea:
A management challenge. American family physician, 69(11),
2628-2635
Houlihan, C.M., O'Donnell, M., Conaway, M., & Stevenson,
R.D. (2004). Bodily pain and health-related quality of life in children
with cerebral palsy. Developmental Medicine and Child Neurology, 46,
305-310
Isaacs, D., Kilham, H.A., Somerville, H.M., O'Loughlin,
E.V., & Tobin, B. (2004). Ethics Forum-Nutrition in Cerebral Palsy.
Journal of Pediatrics and Child Health, 40(5-6), 308-312
Jenson, M.P., Engel, J.M., Hoffman, A.J., & Schartz,
L. (2004). Natural history of chronic pain treatment in adults with cerebral
palsy. American Journal of Physical Medicine and Rehabilitation, 83(6),
439-435
Koman, L.A., Smith, B.P., & Shilt, J.S. (2004).
Cerebral palsy. The Lancet, 363, 1619-1631
Nickel, R.E., and Desch, L.W. (2000). The physician's
guide to caring for children with chronic disabling conditions. Baltimore,
MD: Paul Brookes Publishing
top