The Doctor is in—

Questions and answers about behavioral and
emotional problems in children

SHARON L. HIRSCH, MD

aSpring 1998

When is being "hyper" more than just an attention deficit hyperactivity disorder?

I have a 10-year-old boy that I care for in my practice. He has been described as becoming more and more hyperactive and impulsive. He has not done well in school and is in special education classrooms. His parents think that he is functioning at about a second-grade level. The parents are also concerned because the other students make fun of him and call him "Dumbo." His ears do appear big to me.

Dr. Sharon L. Hirsch responds:

Attention deficit hyperactivity disorder (ADHD) has received much recent publicity. There is great concern that ADHD is over-diagnosed and that we are "poisoning" our young children with medication, specifically Ritalin. This has created much confusion among parents, not to mention health care providers. When should ADHD be diagnosed, and when should it be treated? This is not always easy to determine, as the diagnosis may be complicated by comorbidity. The question raised here regarding a child that has possible mental retardation and some dysmorphic features brings this issue into sharp focus.

Diagnosis

ADHD has been found to occur in 3 to 5% of the school age population, with rates as high as 10% in elementary-age boys. To diagnose ADHD, a thorough evaluation is important. Information should be obtained from several sources, including the teacher and parents. Specific diagnostic criteria should be obtained, not vague reports of a child being a "behavior problem" or the parents being overwhelmed. In ADHD, the symptoms persist for at least six months and to a degree that is maladaptive and inconsistent with developmental level. Symptoms are present before the age of seven years and cause impairment in two or more settings including social, academic, or occupational functioning. ADHD should not be diagnosed when it occurs exclusively during the course of a pervasive developmental disorder, schizophrenia, or other psychotic disorder.

ADHD may present as types that are primarily inattentive, primarily hyperactive/impulsive or a combination of the two. Symptoms of inattention include the following: inattention to details resulting in careless mistakes, difficulty sustaining attention, not listening, poor follow-through on instructions (failing to finish things), not liking school work nor tasks requiring sustained mental effort, losing things, being easily distracted, and being forgetful. For a diagnosis of ADHD hyperactive/impulsive type (without inattention), at least six of the following symptoms of hyperactivity/impulsivity must be present: fidgeting/squirming, leaving his seat when he should remain seated, running about or climbing excessively, disliking quiet leisure activities, going constantly ("driven by a motor"), talking excessively, blurting out answers before question is completed, inability to wait his turn, and/or frequently interrupting or intruding.

Another part of the evaluation is the family and social history. ADHD is more common in the first-degree relatives of children with ADHD. Studies also suggest that there is a higher prevalence of mood and anxiety disorders, learning disorders, substance-related disorders, and antisocial personality disorder in family members of individuals with ADHD. The development of fetal alcohol syndrome is an example of ADHD symptoms produced as a direct consequence of maternal alcohol abuse. Post-traumatic stress disorder (PTSD) may be revealed in the social history. Traumatized children, such as those who have been abused, suffer intrusive thoughts, flashbacks, and periods of agitation that can lead to inattention and poor school performance. Trauma that is acute in nature and the resulting onset of new symptoms are clues that can help practitioners differentiate PTSD from ADHD. Head trauma is another possible consequence of physical abuse. Children who have suffered head injury are more likely to exhibit symptoms of ADHD. Depression in children or teenagers can present with poor concentration and irritability. The teacher may refer them for an ADHD evaluation when treatment for an affective disorder may be more appropriate.

Another part of the evaluation for ADHD is ruling out medical and/or treatable causes of the disorder. The clinical interview should include questions about nutrition, sleep, safety/ trauma, and probe for symptoms of other psychiatric disorders. A routine physical should be completed every 12 months and abnormalities investigated. Particular emphasis is placed on subtle neurologic symptoms and movement disorders that may result from stimulant treatment. Seizure disorder and thyroid abnormalities are some of the many illnesses that may have symptoms mimicking ADHD. In fact, ADHD is the most common psychiatric presentation in seizure disorder patients. The possibility of lead poisoning should be considered, and clinically significant levels of lead should be treated. Genetic factors may predispose an individual to ADHD. These include fragile X syndrome, G6PD deficiency, and PKU. Health problems and malnutrition in the prenatal period and infancy may predispose to ADHD. Evaluations of vision and hearing should be completed before diagnosing or treating ADHD. There are many problems that may cause or contribute to inattention, hyperactivity and impulsivity, and these must be treated before aggressively pursuing a primary diagnosis of ADHD.

School-related assessment is also essential. Behavioral problems in the classroom may indicate a developmental disorder. Psychoeducational testing is indicated as a measure of intellectual and practical skills. Teachers may also help in identifying children who are bored, either because they are too bright or because of a learning disability. Children who are not able to understand may appear bored and may become disruptive in the classroom. Learning disabilities are reported to occur in 10 to 25% of children with ADHD. When there is a long standing problem, such as with this patient, then mental retardation (MR) must be considered. Children may still be diagnosed with ADHD if they have MR but only if the symptoms of inattention or hyperactivity are excessive for the child's mental age.

Rating scales may be helpful both for diagnosis and follow-up. These may include the "Child Behavior Checklist," the "Teacher Report Form" and, for older children, the "Youth Self Report." Teachers may tend not to refer girls for evaluation because they have fewer overt behavior problems than do boys. Typically, aggressive and hyperactive children are noticed and referred -- not children who sit quietly but have difficulty paying attention and staying on task. Specific questions about attention and school performance are, therefore, important to ask.

Fragile X and mental retardation

The fragile X syndrome is the most common inherited form of mental retardation. It is associated with an increase of some ADHD symptoms. Fragile X syndrome occurs in 7% of individuals who have autism, and individuals with the fragile X mutation often have a spectrum of autistic features. Females who are carriers of the fragile X mutation experience more depression, and males with the syndrome have a higher incidence of schizotypal oddness, eccentricity, and magical thinking. Learning disorders are always present to some degree. Although individuals with fragile X syndrome may have strengths in single-word vocabulary, visual matching, reading and spelling, they frequently have problems in mathematics, visual-motor coordination, abstract reasoning, and pragmatics on standardized tests.

Fragile X syndrome is inherited in an X-linked dominant pattern with variable penetrance. Up to 20% of males with the syndrome may be phenotypically normal, and 30% of carrier females are mildly affected. This syndrome occurs in 1/1000 to 1/1250 males and in 1/2000 females. Patients may have a long face, prominent chin, large ears, large head, and males may have postpubertal macroorchidism. Other problems may include opthalmologic strabismus, speech oddities including a jocular/staccato pattern, and connective tissue problems such as pes planus, joint hypermobility, and mitral valve prolapse.

There are no established guidelines for testing of ADHD individuals for the fragile X mutation. It is part of the standard work-up for any patient with mental retardation. If a patient presents with mental retardation of unknown origin, the workup should include chromosome and fragile X testing and a detailed family history. Simply asking if there is any illness or psychiatric history in the family does not always obtain the most thorough results. A family tree should be outlined, and then questions about each first and second degree relative should be asked. A laundry list of illnesses is a good way to summarize and make certain that nothing is missed. At the end of the family history interview, it is helpful to summarize saying: "So no one in your family has had heart disease, kidney problems, etc."; be sure to ask also about learning problems and ADHD. If there is a family history of LD, ADHD, unexplained ophthalmologic problems, connective tissue disorders, or speech oddities, then testing should be done.

Treatment

No matter what is the underlying etiology of ADHD, the treatment of ADHD is the same; it includes pharmacotherapy, psychosocial interventions (especially behavior modification and parent training), and placement in the appropriate school setting. Genetic counseling and appropriate genetic testing should also be recommended for families of individuals with fragile X. Laboratory tests are not routinely performed to diagnose ADHD or before medications are prescribed unless the history suggests a specific problem.

Stimulants remain the mainstay of medication management and include Ritalin, Dexedrine and Adderall. They are effective in 70 to 80% of patients, are short acting, and have relatively few side effects. Other medications used are clonidine, welbutrin, and the tricyclic antidepressants. Nutritional supplements have not been effective in controlled studies. Psychologists generally prefer to test children for possible learning deficits while the youngsters are taking medication. This helps to more reliably identify learning problems. If the child is unmedicated, then it is unclear if the learning disability is simply due to a lack of attention. To assess if the medication is effective, rating scales may be used. The Child Attention Profile (CAP) is a brief teacher rating scale derived from the Teacher Report Form that is convenient for weekly treatment assessments. Another rating scale is the Conners Abbreviated Teacher Rating Scale, developed to measure drug response.

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