Abstract
M
The patient of interest is an engaging 16-year-old female who was found to have Ch 18p- at the age of 5 months and has exhibited a sustained positive response to escitalopram for her anxiety symptoms.
The patient was born at term, with hypotonia along with a preauricular pit, which prompted a karyotype analysis. This yielded an abnormal female karyotype missing the short arm of Ch 18 with extra satellite material from an unknown acrocentric chromosome; 46, XX, der(18)t(18,?)(p11.1;ps). At birth, she presented with congenital torticollis, submucosal cleft palate, and left eye strabismus. Parents noted global delays and hypotonia around 20 weeks old. She received benefit from early intervention services that included physical, occupational, and speech therapy. The patient's short stature was treated with somatropin starting at age 2 until age 13 with reasonable gains in her growth. She had two surgical procedures for left eye strabismus and tonsillectomy to correct obstructive sleep apnea. She was treated for a facial nerve disorder causing sialorrhea with 2000 U of Myobloc injection into each parotid gland starting at the age of 6 for 3 years and restarted these treatments on a 3 monthly basis at the age of 15. She is currently in physical therapy once a week for her hypotonia. She also attends social skills groups and has made progress in all aspects of her delays.
The patient was referred to the West Virginia University Department of Behavioral Medicine at age 15 with reports of behavioral outbursts lasting up to 1 hour, occurring at times of transition and in anxiety-provoking situations. Worsening over the winter had been observed throughout her elementary school years. More recently, her symptoms appeared at times she was separated from a particular teacher. When faced with a different teacher she threatened to hurt herself. She was fixated on routines and worried excessively about hypothetical situations. She developed a phobia with regard to weather-related disasters, despite the absence of a history of traumatic events. She worried about her safety and the safety of her family. She slept with the lights on and was frightened by thunder. Assessments at age 2, 5, and 15 years did not support a diagnosis of autism spectrum disorder due to her appropriate social reciprocity. After her evaluation, she was diagnosed with specific phobia, natural environment (300.39) along with generalized anxiety disorder (300.02). She was started on escitalopram 5 mg, which was titrated to 10 mg at her 4 weeks follow-up. The patient and her family reported a significant improvement in the 4 weeks follow-up. She worried much less and could cope better with loud noises and transitions with minimal behavioral outbursts. In her 8 weeks follow-up, the patient reported a dramatic improvement in her overall mood and anxiety, in turn, effectuating an improvement in her socialization skills. She did not perseverate on topics or obsess, hence was better able to engage in conversations. The patient did not experience any adverse effects to the escitalopram. Specifically, no activating side effects or gastrointestinal effects were reported. The patient and her family continue to return for follow-up every 3 to 4 months for the past year, and are satisfied with the extremely positive outcome with the medication.
Ch 18p- may be a rare diagnosis, but anxiety is a common sequela of this deletion, and treatment options are not very well researched. When anxiety disorder symptoms are moderate/severe or impairment makes participation in psychotherapy difficult, or psychotherapy results in a partial response, treatment with selective serotonin reuptake inhibitor (SSRI) medication is recommended. Randomized placebo-controlled trials with fluoxetine, fluvoxamine, sertraline, and paroxetine have established short-term efficacy in treating a variety of anxiety disorders in children (Connolly and Bernstein 2007). Wang et al. (2017) demonstrated in their systematic review and meta-analysis that selective serotonin reuptake inhibitors, serotonin-norepinephrine reuptake inhibitors, and cognitive behavioral therapy were all effective treatments for anxiety. The significant improvement seen in this adolescent's anxiety and related behaviors upon treatment with escitalopram should be considered in the treatment of other Ch 18p- patients with anxiety. It should be noted that this patient did not experience any side effects of this treatment, indicating possible safety in addition to efficacy in this patient population. To our knowledge, this is the first report indicating the effectiveness of escitalopram in treating anxiety in Ch 18p- deletion syndromes. Further studies are needed to determine the efficacy and safety of escitalopram in this subset of patients with anxiety.
Footnotes
Acknowledgments
Support was received from the patient and her legal guardian who provided written consent, assent, and reviewed the draft of the document.
Disclosures
The authors indicate they have no financial relationships relevant to this article.