October 2021
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Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder characterized by respiratory symptoms such as hypoventilation during sleep, significantly reduced ventilatory and arousal responses, and sustained hypoxia. Patients with CCHS exhibit neurocognitive deficits due to structural abnormalities in the brainstem, cerebellum, and forebrain. Due to the potential for repeated hypoxemia and hypercarbia among patients with CCHS, neurocognitive functioning is often impaired. This is the first described report in which a patient with CCHS and specific phobia has been reported and highlights the importance of neuropsychological testing in directing treatment approaches. We report a case of a 26-year-old male, diagnosed with CCHS and specific phobia. This patient was overdue for a needed bronchoscopy to check his airway for abnormalities (recommended every 12-24 months). The patient had developed a specific phobia to procedures involving anesthesia. It was determined in the initial phase of treatment that the patient’s neurocognitive status was impacting his ability to engage in psychiatric and psychosocial treatment. This patient’s care consisted of neuropsychological testing, with medication consultation, and cognitive behavioral psychotherapy. Treatment involved consistent collaboration among the patient’s treating clinicians as well as collaboration with the patient’s family and team of nurses. At the conclusion of treatment, the patient had successfully completed his bronchoscopy and future treatment goals were identified. This case emphasizes the importance of a neuropsychological evaluation when there is a disconnect in a patient’s information processing, as the results may be highly informative in directing treatment for patients with CCHS and specific phobia. The collaborative care we provided offers insights which may direct future interventions for patients with CCHS and improve their quality of life. Our case adds support to the recommendation that patients with CCHS and impaired psychosocial functioning should receive neuropsychological testing to best direct treatment. 1. Introduction Congenital central hypoventilation syndrome (CCHS) is a rare genetic condition characterized by hypoventilation with progressive hypoxemia and hypercarbia during sleep but with normal ventilation while awake [1, 2]. These patients experience extreme sleep-related hypoventilation which sometimes extends to wakefulness [3]. CCHS is related to mutations of the PHOX2B gene and involves multiple autonomic nervous system disorders marked by impaired ventilatory function [3]. Respiratory arrest during sleep is a constant threat for these patients, and the majority are on long-term ventilatory support via tracheostomy. This disease has an overall high mortality rate with only 50 of 70 patients living beyond 1 year of age [4]. Additional comorbidities include cardiac conduction disorders, gastroesophageal reflux, constipation with Hirschsprung’s disease, thermal dysregulation, orthostatic hypotension, ophthalmologic disorders, or neural crest tumors [5]. Patients with CCHS require ventilatory support, and a bronchoscopy is recommended every 12-24 months to examine for abnormalities in the airway [6]. In addition to the medical comorbidities, a number of neurocognitive abnormalities are present in patients with CCHS [2]. Functional magnetic resonance imaging (fMRI) studies show structural differences in the brainstem and cerebellum to the forebrain [7]. What is not clear is whether these abnormalities are caused directly by the pathology or the result of the disease-causing mutation [2]. A study conducted with children with CCHS demonstrated reduced corpus callosum fibers in motor, cognitive, speech, and ophthalmologic regulatory areas [8]. As patients advance in age, patients with CCHS evidenced decreases in the volume of gray matter in autonomic, respiratory, and cognitive regulatory areas. This change in gray matter may be a contributing factor to the functional cognitive deterioration noted in patients with CCHS [9]. Based on cross-sectional study data of 196 patients with CCHS (age range 0.4-38 years), we know that children and young adults with CCHS report a broad range of developmental, psychological, and neurocognitive problems [4]. Such problems include developmental delays (45%), learning disabilities (29.6%), attention deficit disorder (12.8%), speech delay (51%), and delays in motor development (45.4%) as discussed by Ruof et al. [4]. In the handful of studies that have been conducted, neurocognitive deficits are often present for patients with CCHS as well as impaired psychosocial functioning [10]. Although the symptoms and resulting impairments caused by CCHS may lead to significant anxiety, few published reports exist of this association. Even fewer published studies discuss treatment options for psychiatric management of cognitive and psychiatric symptoms for patients with CCHS. Due to the rarity of CCHS, many physicians are unaware of this diagnosis and may only treat one of these highly specialized patients over the course of their professional work [11]. The role of neuropsychological evaluation was critical in our understanding this patient’s current functioning and to direct our treatment approach. Therefore, we provide the details of this case as well as the highly collaborative nature (see Figure 1) of the care provided in an effort to both increase awareness about this syndrome and share key components of treatment that may be applied to other individuals with CCHS and psychiatric comorbidities.