Conditions in adults thought of as childhood diseases

There are a number of conditions that are commonly thought of as childhood disorders that can either begin in childhood and extend into adulthood or even start in adolescence or adulthood. These include muscular dystrophy, cerebral palsy, fragile X syndrome and attention deficit disorders.

Fragile X syndrome is typically a condition mostly, but not exclusively, affects young boys with variable symptoms of learning disabilities, intellectual impairment, autism, unsteadiness, tremor and seizures. The problem is with a chromosome that produces abnormal amounts of RNA. Mild cases can be virtually asymptomatic. More severe cases can show some of the above symptoms in addition to seizures, mood instability, aggression, ovarian insufficiency, fibromyalgia, hypothyroidism and neuropathy. In adults there are physical features associated with this including a long face, prominent earlobes, high arched palate, mitral valve prolapse, dilated aortic arch, flat feet, excessively flexible finger joints, soft velvet -like skin and large testicles. There is no specific treatment for fragile X syndrome but a number of medications can help the symptoms including mood stabilizers, medications for memory; hypertension which can be present and can be treated, and educational programs for autism and attention deficit.

Muscular dystrophy is typically thought of as a pediatric disorder and indeed the classic picture of a child in a wheelchair often represents Duchennes muscular dystrophy, which does start around age 4. Duchennes patients typically only survived to adolescence or early adulthood but now there are more cases of survival into the third and fourth decades of life. This is an X-linked recessive disorder and therefore only affects males. Thirty to 50 percent have intellectual impairment or autistic features. A milder form that often presents in older children or even adults in their 40s and 50s is called Becker muscular dystrophy. Although milder than Duchennes it is still usually found primarily in males and there is symmetric weakness of the muscles around the shoulders and hips. Some cases are so mild that they had virtually no symptoms other than mild exercise intolerance and muscle aching. There may be mild abnormalities on blood tests. A condition called myotonic dystrophy, another form of muscular dystrophy, typically does present in adulthood. This shows a somewhat unusual condition where the muscles have difficulty relaxing once flexed. For example if somebody makes a tight fist and then only slowly can open it (and not due to pain or tendon issues) this is called myotonia which can be seen with many conditions other than muscular dystrophy and these all need to be evaluated. In the full syndrome of myotonic dystrophy theres weakness in the hands and feet, a long thin face, hormonal abnormalities, cataracts and neuropathy. This is an inherited disorder and although theres no treatment per se, the diagnosis is something that should be pursued for prognostic purposes and genetic counseling.

Cerebral palsy is a condition where there is damage done to the brain either before or shortly after birth. There are many types with a wide range of severities. Symptoms can be so mild as to be virtually asymptomatic with only slight stiffness or weakness of one or both feet, to being fully dependent for mobility. The hallmark is walking impairment and more typically weakness, spasticity, and muscle atrophy in the legs but associated cognitive impairment, seizures, abnormalities of hearing or vision, difficulty with behavior and mood are not uncommon. With proper care children often live well into adulthood where the above issues need to be addressed by physicians and therapists who treat adults. Cerebral palsy is considered a nonprogressive disease but as the body in general and nervous system in particular matures, changes do occur. Multiple orthopedic procedures are often needed on feet, legs and hips to improve mobility, decrease muscle spasms, and alleviate pain.

Attention deficit hyperactivity disorder (ADHD) is typically thought of as a condition of childhood but it can persist into adulthood in about 50% of the cases. It is also a question of whether the other 50% actually outgrow it completely or accommodate to it in aspects of life, occupation and social activities. The characteristic symptoms of inattention, impulsiveness and physical hyperactivity often starts before the age 7. Criteria have been set up to establish the diagnosis and it is important to establish if this condition is the case so as to direct treatment and not relegate a child into a category, or give a label that are often pejorative, unfair and beyond their control. Medications often are very helpful but there are many other treatments, such as modifications of the learning environment that can improve on a childs quality of life and success in school performance, self-esteem, and eventually level of accomplishment as an adult.

Questions and or comments regarding this weeks health column please contact Stuart Kieran, MD at Bitterroot Neurology, 1019 West Main Street, Hamilton, MT 59840. Working together to build a healthier community!

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Conditions in adults thought of as childhood diseases