Williams syndrome is a neurodevelopmental disorder caused by micro-deletion at chromosome 7q11.23. It is associated with ADHD by 65-84% Moebius syndrome is a rarely seen congenital syndrome with non-progressive nature, which is characterized by facial and ocular paralysis. It may be associated with mental retardation and ADHD. Our aim is to present our experience regarding difficulties in the medical treatment of ADHD cases associated with syndromes and therapeutic effectiveness.
Case 1: A six-year old girl referred to our clinic with hyperactivity, inattention. She had been attending to special education; that she had been hyperactive and walked in the class during lesson. In the interview dysmorphic facial appearance was striking, she was diagnosed as Williams Syndrome. With initial diagnosis of ADHD, short-acting methylphenidate was prescribed, which was then gradually titrated up to 1 mg/kg. In the control visit, methylphenidate treatment was withdrawn due to ongoing complaints of inattention, hyperactivity and difficulty in adaptation to school in the patient who had newly onset nervousness, irritability and obsessions. Thus; atomoxetine therapy was prescribed and dose was escalated to 1.5 mg/kg. In control visits, there was improvement in hyperactivity and parents of the patient reported she had better attention and improved nervousness. The patient is still attending control visits.
Case 2: A nine-year old boy referred to our clinic with inattention, disinterest to lessons and hyperactivity. He had low academic success since first grade. In the interview, facial asymmetry and expressionless facial appearance were striking. He was diagnosed as Moebius syndrome. Methylphenidate was prescribed with initial diagnosis of ADHD, which was gradually titrated up to 1 mg/kg. However, it was withdrawn due to onset of phobias and visual hallucinations as well as lack of improvement in attention problems. Atomoxetine was then prescribed which was gradually titrated up to 1.2 mg/kg. In control visits, there was improvement in hyperactivity and academic success while he had no problem in adaptation to classmates. The patient is still attending to control visits. Early diagnosis allows early introduction of treatment in ADHD and providing appropriate management can allow better prognosis in syndromic children. Dramatic occurrence of adverse effects in our patients suggests that there is an increased vulnerability to adverse effects of methylphenidate in syndromes when compared to other ADHD entities and that one should give attention regarding adverse effects, with close monitoring. These patients have great similarity to findings in the literature regarding adverse effects. No clinical improvement was achieved by methylphenidate; however, atomoxetine treatment provided marked benefit in our cases. These findings are inconsistent to studies proposing high success rates for methylphenidate in the literature. Although these cases suggest that atomoxetine treatment can be primarily preferred in patients with syndromes and ADHD regarding effectiveness and adverse effect profile, further studies are needed about atomoxetine treatment in association of syndromes with ADHD.