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Zelko F.A.,Northwestern University | Nelson M.N.,Rush University Medical Center | Leurgans S.E.,Rush University Medical Center | Berry-Kravis E.M.,Rush University Medical Center | And 2 more authors.
Pediatric Pulmonology | Year: 2010

Objective: Examine indices of neurocognitive functioning in children with PHOX2B mutation-confirmed neonatal onset congenital central hypoventilation syndrome (CCHS) and relate them to indices of PHOX2B genotype, demographics, and disease severity. Methods: Subjects were 20 patients with PHOX2B mutation-confirmed CCHS diagnosed as neonates who had undergone neurocognitive assessment in the course of clinical care at the Rush Children's Hospital CCHS Center between 1990 and 2006. Neurocognitive variables of interest included Full Scale IQ (FSIQ) and Wechsler-derived marker indices (subtests) of verbal comprehension (Vocabulary), visuoperceptual reasoning (Block Design), working memory (Digit Span), and clerical/processing speed (Coding). Results: Single sample t-tests revealed participants' general intelligence index (FSIQ; mean 84.9, SD 23.6) to be lower than the general population, though the range of FSIQ observed was broad. Visuoperceptual reasoning and clerical/visuographic speed marker indices were similarly depressed. These deficits were related to special education participation but not to PHOX2B genotype status or other demographic and clinical risk factors. Conclusions: PHOX2B mutation-confirmed CCHS confers risk for adverse neurocognitive outcome, though the range of functioning observed raises questions about factors that may contribute to neurocognitive variability. Visuoperceptual reasoning and clerical/visuographic speed appear particularly vulnerable. PHOX2B genotype and disease severity indicators were unrelated to neurocognitive indices, possibly due to our modest sample. Future research should employ comprehensive neurocognitive assessment emphasizing visuoperceptual ability, mental speed, attention, and information processing efficiency. Increased recognition and expedited diagnosis with PHOX2B testing should allow larger studies of the relationship between neurocognitive functioning, PHOX2B genotype/mutation, and disease severity and management. © 2009 Wiley-Liss, Inc. Source


Kuntz N.L.,Northwestern University | Patwari P.P.,Northwestern University | Patwari P.P.,Center for Autonomic Medicine in Pediatrics
Seminars in Pediatric Neurology | Year: 2013

The autonomic nervous system controls a variety of fundamental physiological processes in the human body including regulation of breathing, heart rate, blood pressure, temperature, and gastrointestinal motility. Although, methods of testing autonomic function have been developed and normative data have been collected in adults, development of child-friendly testing and the field of pediatric autonomic medicine is just beginning. These noninvasive testing methods serve to identify changes in autonomic functioning and to clarify whether dysfunction is isolated or crosses into multiple systems. Methods for testing cardiovagal, adrenergic, sudomotor, pupillary, enteric, and bladder function need to be refined and made more child friendly at the same time that age and gender appropriate normative values are developed for children. © 2013 Elsevier Inc. Source


Wang H.,Northwestern University | Wang H.,Peking Union Medical College | Zee P.,Northwestern University | Reid K.,Northwestern University | And 9 more authors.
Sleep Medicine | Year: 2011

Background: There are limited data about the role of gender on the relationship between sleep duration and blood pressure (BP) from rural populations. Methods: We conducted a cross-sectional rural population-based study. This report includes 1033 men and 783 women aged 18-65. years from a cohort of twins enrolled in Anhui, China, between 2005 and 2008. Sleep duration was derived from typical bedtime, wake-up time, and sleep latency as reported on a standard sleep questionnaire. Primary outcomes included measured systolic blood pressure (SBP) and diastolic blood pressure (DBP). High blood pressure (HBP) was defined as SBP ≥130. mmHg, DBP ≥85. mmHg, or physician diagnosed hypertension. Linear and logistic regression models were used to assess gender-specific associations between sleep duration and BP or HBP, respectively, with adjustment for known risk factors including adiposity and sleep-related disorder risk from the questionnaires. Generalized estimating equations were used to account for intra-twin pair correlations. Results: Compared with those sleeping 7 to <9. h, women sleeping <7. h had a higher risk of HBP (odds ratios [ORs] 3.0, 95% confidence interval [CI], 1.4-6.6); men sleeping ≥9. h had a higher risk of HBP (ORs=1.5, 95%CI: 1.1-2.2). Conclusions: Among rural Chinese adults, a gender-specific association of sleep duration with BP exists such that HBP is associated with short sleep duration in women and long sleep duration in men. Longitudinal studies are needed to further examine the temporal relationship and biological mechanisms underlying sleep duration and BP in this population. Our findings underscore the potential importance of appropriate sleep duration for optimal blood pressure. © 2011 Elsevier B.V. Source


Patwari P.P.,Northwestern University | Patwari P.P.,Center for Autonomic Medicine in Pediatrics | Carroll M.S.,Center for Autonomic Medicine in Pediatrics | Rand C.M.,Center for Autonomic Medicine in Pediatrics | And 4 more authors.
Respiratory Physiology and Neurobiology | Year: 2010

The paired-like homeobox 2B gene (PHOX2B) is the disease-defining gene for congenital central hypoventilation syndrome (CCHS). Individuals with CCHS typically present in the newborn period with alveolar hypoventilation during sleep and often during wakefulness, altered respiratory control including reduced or absent ventilatory responses to hypercarbia and hypoxemia, and autonomic nervous system (ANS) dysregulation; however, a subset of individuals present well into adulthood. Thermoregulation is altered and perception of shortness of breath is absent, but voluntary breathing is retained. Structural and functional magnetic resonance imaging (MRI) and limited post-mortem studies in subjects with CCHS reveal abnormalities in both forebrain and brainstem. MRI changes appear in the hypothalamus (responsible for thermal drive to breathing), posterior thalamus and midbrain (mediating O2 and oscillatory motor patterns), caudal raphé and locus coeruleus (regulating serotonergic and noradrenergic systems), the lateral medulla, parabrachial pons, and cerebellum (coordinating chemoreceptor and somatic afferent activity with breathing), and insular and cingulate cortices (mediating shortness of breath perception). Structural and functional alterations in these sites may result from PHOX2B mutations or be secondary to hypoxia/perfusion alterations from suboptimal management/compliance. The study of CCHS, with collaboration between physician-scientists and basic scientists, offers a rare opportunity to investigate control of breathing within the complex physiological network of the ANS. © 2010 Elsevier B.V. Source


Saiyed R.,Center for Autonomic Medicine in Pediatrics | Rand C.M.,Center for Autonomic Medicine in Pediatrics | Carroll M.S.,Center for Autonomic Medicine in Pediatrics | Carroll M.S.,Northwestern University | And 2 more authors.
Sleep Medicine Clinics | Year: 2014

Early clinical identification and intervention, along with regular surveillance of all clinical features as part of ongoing care, are paramount in ensuring that individuals with CCHS and ROHHAD maximize their neurocognitive potential and ability to lead stable, relatively normal lives. With the discovery of a genetic basis and the advent of diagnostic testing, significant strides have been made in the clinical management and understanding of CCHS/LO-CCHS. These advances highlight the potential value of an analogous discovery in ROHHAD, for which efforts are ongoing. As disorders with phenotypic manifestations that span an array of medical systems and processes, CCHS/LO-CCHS and ROHHAD warrant specialized medical attention. Ideally this care should be provided at centers dedicated specifically to the care of individuals with these unique disorders, with continuous collaboration and coordination with regional providers. Such consolidation of principal care can allow for improved recognition and management of clinical symptoms of these disorders and, accordingly, improve outcomes for affected individuals. To further aid with these efforts, registries have been established for both CCHS and ROHHAD. These secure online systems aim to consent and enroll all individuals internationally with CCHS and ROHHAD to systematically document their clinical development with advancing age. Such documentation allows for strengthened coordination and dissemination of novel developments related to the evolving understanding of the diagnosis and management of these disorders, and notice of any ongoing clinical or drug intervention trials. Further information on the International CCHS and ROHHAD REDCap Registries can be found on the Center for Autonomic Medicine in Pediatrics (CAMP) at the Ann " Robert H. Lurie Children's Hospital of Chicago Web site (http://www. luriechildrens.org/en-us/care-services/condi tions-treatments/autonomic-medicine/Pages/ basics/basics.aspx), or by e-mailing CRand LurieChildrens.org. © 2014 Elsevier Inc. All rights reserved. Source

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