Congenital central hypoventilation syndrome: Broader cognitive deficits revealed by parent controls

Zelko, Frank; Stewart, Tracey M.; Brogadir, Cindy D.; Rand, Casey M.; Weese‐Mayer, Debra E.

doi:10.1002/ppul.23939

Cited by 18 publications

(13 citation statements)

References 18 publications

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“…Neurocognitive outcomes in CCHS On average, intellectual functioning was estimated to fall in the borderline impaired range in our sample. This is somewhat lower than prior studies, which estimated IQ to fall within the borderline to low average range [11][12][13][14][15]; however, the wide variability in IQ that we found in our sample is consistent with previous work. Discrepancies in average IQ between our sample and previous work with CCHS patients may be related to small samples sizes across studies.…”

Section: Discussionsupporting

confidence: 89%

“…Due to potential for repeated hypoxemia and hypercarbia among individuals with CCHS, neurocognitive functioning is often impaired [6], and comprehensive neuropsychological assessment (which includes neurocognitive testing as well as consideration of psychosocial functioning and adaptive skills) has been recommended as part of routine medical care among this population [7]. While a few studies have evaluated neural abnormalities in CCHS patients [8][9][10], only a handful of studies have examined neurocognitive functioning [11][12][13][14][15]. The limited available data from these studies demonstrates overall intellectual functioning falling within the borderline impaired to low average range but with substantial variability.…”

Section: Introductionmentioning

confidence: 99%

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Neurocognitive functioning in individuals with congenital central hypoventilation syndrome

Macdonald

Mosquera²,

Yadav³

et al. 2020

BMC Pediatr

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Background: Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by respiratory system abnormalities, including alveolar hypoventilation and autonomic nervous system dysregulation. CCHS is associated with compromised brain development and neurocognitive functioning. Studies that evaluate cognitive skills in CCHS are limited, and no study has considered cognitive abilities in conjunction with psychosocial and adaptive functioning. Moreover, the roles of pertinent medical variables such as genetic characteristics are also important to consider in the context of neurocognitive functioning. Methods: Seven participants with CCHS ranging in age from 1 to 20 years underwent neuropsychological evaluations in a clinic setting. Results: Neurocognitive testing indicated borderline impaired neurocognitive skills, on average, as well as relative weaknesses in working memory. Important strengths, including good coping skills and relatively strong social skills, may serve as protective factors in this population. Conclusion: CCHS was associated with poor neurocognitive outcomes, especially with some polyalanine repeat expansion mutations (PARMS) genotype. These findings have important implications for individuals with CCHS as well as medical providers for this population.

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Section: Discussionsupporting

confidence: 89%

Section: Introductionmentioning

confidence: 99%

Neurocognitive functioning in individuals with congenital central hypoventilation syndrome

Macdonald

Mosquera²,

Yadav³

et al. 2020

BMC Pediatr

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“…Neurocognitive deficits have been reported in CCHS children (Charnay et al, 2016;Zelko et al, 2018), and probably both the primary developmental damage and the chronic episodes of hypoxia-reoxygenation, potentially occurring during nocturnal assisted ventilation but also during wakefulness, contribute to neurological outcome. It has recently been reported that these conditions may cause the overproduction of reactive oxygen species (ROS) (Degl'Innocenti et al, 2018), inducing oxidative stress, cellular damage and eventually activating apoptotic pathway (Rahal et al, 2014).…”

Section: Congenital Central Hypoventilation Syndrome (Cchs): Clinicalmentioning

confidence: 99%

Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS)

et al. 2021

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Congenital central hypoventilation syndrome (CCHS) is a genetic disorder of neurodevelopment, with an autosomal dominant transmission, caused by heterozygous mutations in the PHOX2B gene. CCHS is a rare disorder characterized by hypoventilation due to the failure of autonomic control of breathing. Until now no curative treatment has been found. PHOX2B is a transcription factor that plays a crucial role in the development (and maintenance) of the autonomic nervous system, and in particular the neuronal structures involved in respiratory reflexes. The underlying pathogenetic mechanism is still unclear, although studies in vivo and in CCHS patients indicate that some neuronal structures may be damaged. Moreover, in vitro experimental data suggest that transcriptional dysregulation and protein misfolding may be key pathogenic mechanisms. This review summarizes latest researches that improved the comprehension of the molecular pathogenetic mechanisms responsible for CCHS and discusses the search for therapeutic intervention in light of the current knowledge about PHOX2B function.

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“…Many patients with CCHS demonstrate both cognitive disruptions and anxiety/mood lability [ 1 ]. CCHS typically presents in the neonatal period and is characterized by hypoventilation, autonomic dysregulation, and elevated risk for neurocognitive dysfunction [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

It Takes a Village: The Importance of Neuropsychological Findings in a Collaborative Approach for a Patient with Congenital Central Hypoventilation Syndrome and Specific Phobia

Skoch

Stein

et al. 2021

Case Reports in Psychiatry

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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.

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Congenital central hypoventilation syndrome: Broader cognitive deficits revealed by parent controls

Cited by 18 publications

References 18 publications

Neurocognitive functioning in individuals with congenital central hypoventilation syndrome

Neurocognitive functioning in individuals with congenital central hypoventilation syndrome

Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS)

It Takes a Village: The Importance of Neuropsychological Findings in a Collaborative Approach for a Patient with Congenital Central Hypoventilation Syndrome and Specific Phobia

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