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PEDIATRIC DEVELOPMENTAL DISABILITIES
DEVELOPMENTAL DELAY: impairment or insufficient development of the brain resulting in an inability to learn at the usual rate.
Some of the reasons for developmental delay include a lack of parental interaction, severe vision or hearing impairment, mental retardation, brain damage, severe diseases of body organs and systems, or congenital anomalies. Note that developmental and intellectual disability, are not the same:
- Intellectual Disability is actually a type of developmental delay related to low intelligence quotient (IQ) and difficulty dealing with daily life.
Parents or the primary healthcare provider are often the first to notice developmental delays. Children have general timeframes for achieving milestones in walking upright, fine hand-eye coordination, language, listening, speech, and social interactions. Deviation from these timeframes may indicate a developmental delay.
Considerations When Assessing Developmentally Disabled Children
When you have a patient with a developmental delay, accommodations may be necessary when providing patient care. This includes
- allowing adequate time for obtaining a history,
- allowing extra time for performing the assessment,
- allowing extra time for patient management, and
- extra time for preparing the patient for transport.
Some patients may be anxious about going somewhere with strangers; consider allowing a caregiver to ride along to ease the patient's anxiety. Other patients may want to bring a comfort object, like a blanket or teddy bear; if possible, allow this to decrease their anxiety.
One type of developmental delay is Down Syndrome. Patients with Down Syndrome have an extra chromosome 21. Risk factors for having Down Syndrome include advanced maternal age or a family history of Down Syndrome.
People with Down Syndrome have some common characteristics:
- exhibit poor muscle tone,
- short necks with extra skin at the back of the neck ("nuchal folds"),
- flattened facial profile,
- flattened nose,
- small ears,
- small head,
- small mouth,
- upward-slanting eyes with a fold of skin on the inner canthus, and
- white spots on the eye's iris.
They may also have
- wide, short hands,
- short fingers and a single, deep crease along the palm of the hand.
They also often have
- mild to moderate cognitive impairment and they may have
- speech delays.
People with Down Syndrome have an average life expectancy of 60 years, according to the National Institutes of Health.
However, Down Syndrome is associated with heart abnormalities, hearing problems, vision problems, and Alzheimer's disease. Patients with Down Syndrome may have cognitive impairment and may have guardians, even if they are adults. They may have a bond with their caregivers, and it may ease the patient's anxiety if the caregiver accompanies you to the hospital.
Autism, or autism spectrum disorders, is a development disorder that significantly impairs a person's ability to communicate and interact socially.
The autism spectrum runs from very high-functioning individuals who are able to do well in society to individuals with profound social and communicative impairments. They may have varying developmental and intellectual delays. Science has not yet determined what causes autism, although research does indicate that both genetics and the environment may play roles.
Despite popular Internet myths, vaccines do not cause autism.
A person with autism develops normally for the first 18 to 24 months of life, then he or she stops meeting new developmental milestones and may even backtrack developmentally.
Some potential signs of autism include
- not responding to their name by 12 months old,
- preferring to play alone,
- avoiding eye contact with others,
- avoiding physical contact,
- cannot be comforted by others when upset, or
- flapping, rocking back and forth, or turnig in circles.
MANAGEMENT: People with autism may respond differently than expected to physical or verbal stimuli. Explain what you're going to do before you do it. Realize that people with autism may react unexpectedly to pain - either not reacting to it at all or laughing or humming.
Excess noise may overstimulate a patient with autism, so try to do physical exams in a quiet place, if possible. Having a caregiver or a comfort object like a teddy bear present may help the patient feel more at ease.
Congenital Causes of Disability
In the developing fetus, one crucial event is the closure of the neural tube (4th -5th weeks gestaiton) and the closure of the vertebral arches near the end of the first trimester. If closure is defective, it results in a congential deformation called a neural tube defect (NTD). NTDs, depending on the timing of the defect, can result in brain abnormalities (anencephaly--absence of brain tissue; encephalocele--protrusion of brain tissue) or spinal defects (meningomyelocele--spina bifida).
- In individuals with myelomeningocele, the unfused portion of the spinal column allows the spinal cord to protrude through an opening. The meningeal membranes that cover the spinal cord also protrude through the opening, forming a sac enclosing the spinal elements.
- A meningocele is also incomplete closure, but while spinal fluid and meninges may protrude, there are no neural elements (cord) exposed.
Management of meningomyelocele at birth: Cover the defect with a sterile, saline-soaked dressing. If the defect is large, further cover with plastic wrap to prevent loss of heat. Position the infant prone or lateral, to prevent pressure on the lesion. Causes of NTDs: inadequate folic acid in the diet, inadequate metabolism of folic acid; genetic abnormalities; infection/fever in pregnancy; diabetes and obesity;
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