Medical and psychosocian outcome of children with congenital central hypoventilation syndrome C a r o l e L. M a r c u s , MBBCh, M a r y T. J a n s e n , LVN, M a r i e K. Poulsen, PhD, Susan E. Keens, PhD, Toni A. Nield, PT, Lee E. Lipsker, PhD, a n d T h o m a s G. Keens, MD From the Division of Neonatology and Pediatric Pulmonology and the University Affiliated Program, Childrens Hospital Los Angeles, University of Southern California School of Medicine, Los Angeles, and Lee Edward Travis Institute for Biopsychosocial Research and the Graduate School of Psychology, Fuller Theological Seminary, Pasadena, California
W e report the long-term medical a n d psychosocial o u t c o m e of 13 children with congenital central hypoventilation syndrome. O n e child (8%) died before initial hospital discharge. Of the remaining 12 children, 11 (92%) have been successfullycared for in theirnatural or foster parents' homes. H o m e ventilatorysupport was provided with positive-pressure ventilation, negative-pressure ventilation, or diaphragm pacers. After an initialmengthy hospitalization,children spent lit-
tle time in the hospital. Severe medical complications were u n c o m m o n but included cor pulmonale (one child),poor growth (two children),and seizure disorder (three children). Most children functioned in the slow-learner range of mental processing, with a composite score (Kaufman Assessment Battery for Children) of 78 • 20 (SD); two were mentally retarded, and one functioned a b o v e the normal range. The children's c a r e givers were assessed as having low levels of psychologic distress (Symptom Checklist 90--Revised) and g o o d coping resources (Coping Resources inventory) but a high level of marital discord. The children were able to attend school and partake in normal childhood activities. We conclude that with modern techniques for home ventilation, children with CCHS can have a good long-term medical and psychosocial outcome. We s p e c u l a t e that early diagnosis and the prevention of intermittent h y p o x i a will i m p r o v e their p h y s i c a l and m e n t a l o u t c o m e . (J PEDIATR1991;119:888-95)
Congenital central hypoventilation syndrome, also known as Ondine's curse, is a rare disorder of central control of ventilation in which patients hypoventilate primarily during sleep. Increased recognition of the syndrome and improved Supported in part by grants from the Ventilatory Control Disorders Research Fund of the Division of Neonatology and Pediatric Pulmonology, Childrens Hospital Los Angeles, and the Ruth and Vernon Taylor Foundation. Dr. Marcus is a recipient of a Childrens Hospital Los Angeles Research Fellowship Support grant. Submitted for publication April 29, 1991; accepted June 18, 1991. Reprint requests: Thomas G. Keens, MD, Division of Neonatology and Pediatric Pulmonology, Childrens Hospital Los Angeles, 4650 Sunset Blvd., Box 83, Los Angeles, CA 90027. 9/20/31952
888
methods of ventilatory support have resulted in an increasing number of children for whom a diagnosis of C C H S has been made. It is possible that some deaths from the sudden infant death syndrome or from unexplained cardiac failure I may have involved C C H S . Previous reports described subCCHS Pco; SCL-90R
Congenital central hypoventilation syndrome PartiaI pressure of carbon dioxide Symptom Checklist 90--Revised
I
I
I
stantial morbidity and mortality rates among children with C C H S . 2"4 A recent report described deaths from cor pulmonale, aspiration, or sepsis in seven of eight C C H S patients. 5 Information regarding neurodevelopmental sta-
Volume 119 Number 6
tus in surviving children is confined to one report 6 describing long-term outcome and prolonged survival of six children with CCHS, and suggesting a better physical and neurologic outcome with an improved quality of life. However, this report does not provide a detailed analysis of developmental or psychosocial factors. Thus the natural history and long-term outcome of CCHS, especially the quality of life, are not known. We therefore report medical and psychosocial outcome observed during our experience of caring for 12 children with CCHS. METHODS The diagnosis of CCHS was based on the following criteria: persistent sleeping hypoventilation (partial pressure of carbon dioxide consistently >60 mm Hg according to measurements of carbon dioxide in arterial blood drawn through an indwelling catheter or according to noninvasive measurements of end-tidal carbon dioxide obtained during polysomnography), onset of symptoms from birth or early infancy, and absence of primary pulmonary, cardiac, metabolic, or neuromuscular dysfunction. The hospital records of all children with CCHS followed at our institution were reviewed. One child who died before initial hospital discharge is mentioned in the Mortality Rate section, below, but is not included in other analyses. Pulmonary function testing. Pulmonary function tests were obtained in a standard manner. The vital capacity and its subdivisions were measured from a slow exhalation with a wedge spirometer (model 3000, Med-Science, St. Louis, Mo.). Forced vital capacity, forced expiratory volume in 1 second, forced expiratory flow in mid-expiratory (25% to 75%) phase, and maximal expiratory flow volume curves were obtained from forced expiration into the wedge spirometer. Functional residual capacity was measured with a body pressure plethysmograph (model 2800 Autobox, Sensormedics Corp., Yorba Linda, Calif.). Individual test results were analyzed and considered abnormal if they were >2 SD from available reference values appropriate for age, height, and gender. 7 Developmental assessment. Nine children with CCHS underwent developmental testing; three were not being followed at Childrens Hospital Los Angeles at the time that developmental testing was performed. The following measures were administered: 1. The children's parents completed the Conners Hyperkinesis Rating Scale, 8 a widely used scale that can assist in identifying behavior problems. It consists of a checklist of symptoms that are rated on a four-point scale. 2. A battery of psychometric tests to assess neurodevelopmental and psychoeducational function, including the following: a. Kaufman Assessment Battery for Children, 9 which
Outcome of congenital hypoventilation syndrome
889
consists of 16 subtests that combine to provide five scales to separate problem-solving ability from the acquisition of knowledge. Areas o f functioning that are assessed include mental processing abilities, sequential processing abilities, simultaneous processing abilities, achievement, and nonverbal abilities. b. Peabody Picture Vocabulary Test, l~ which measures receptive language. c. Developmental Test of Visual-Motor Integration. ~ These assessment tools were chosen because they are used widely among all socioeconomic groups. All the scaled scores have a mean of 100 and a standard deviation of 15. Standard scores >85 are considered to be within normal limits in comparison with those of the normative group. Scores between 71 and 84 indicate developmental delay, and scores 60.15 3. Coping Resources Inventory, which investigates coping resources in a population. 16 Care givers were defined as having low coping resources if they had Coping Resources Inventory total scores
W e report the long-term medical a n d psychosocial o u t c o m e of 13 children with congenital central hypoventilation syndrome. O n e child (8%) died before initial hospital discharge. Of the remaining 12 children, 11 (92%) have been successfullycared for in theirnatural or foster parents' homes. H o m e ventilatorysupport was provided with positive-pressure ventilation, negative-pressure ventilation, or diaphragm pacers. After an initialmengthy hospitalization,children spent lit-
tle time in the hospital. Severe medical complications were u n c o m m o n but included cor pulmonale (one child),poor growth (two children),and seizure disorder (three children). Most children functioned in the slow-learner range of mental processing, with a composite score (Kaufman Assessment Battery for Children) of 78 • 20 (SD); two were mentally retarded, and one functioned a b o v e the normal range. The children's c a r e givers were assessed as having low levels of psychologic distress (Symptom Checklist 90--Revised) and g o o d coping resources (Coping Resources inventory) but a high level of marital discord. The children were able to attend school and partake in normal childhood activities. We conclude that with modern techniques for home ventilation, children with CCHS can have a good long-term medical and psychosocial outcome. We s p e c u l a t e that early diagnosis and the prevention of intermittent h y p o x i a will i m p r o v e their p h y s i c a l and m e n t a l o u t c o m e . (J PEDIATR1991;119:888-95)
Congenital central hypoventilation syndrome, also known as Ondine's curse, is a rare disorder of central control of ventilation in which patients hypoventilate primarily during sleep. Increased recognition of the syndrome and improved Supported in part by grants from the Ventilatory Control Disorders Research Fund of the Division of Neonatology and Pediatric Pulmonology, Childrens Hospital Los Angeles, and the Ruth and Vernon Taylor Foundation. Dr. Marcus is a recipient of a Childrens Hospital Los Angeles Research Fellowship Support grant. Submitted for publication April 29, 1991; accepted June 18, 1991. Reprint requests: Thomas G. Keens, MD, Division of Neonatology and Pediatric Pulmonology, Childrens Hospital Los Angeles, 4650 Sunset Blvd., Box 83, Los Angeles, CA 90027. 9/20/31952
888
methods of ventilatory support have resulted in an increasing number of children for whom a diagnosis of C C H S has been made. It is possible that some deaths from the sudden infant death syndrome or from unexplained cardiac failure I may have involved C C H S . Previous reports described subCCHS Pco; SCL-90R
Congenital central hypoventilation syndrome PartiaI pressure of carbon dioxide Symptom Checklist 90--Revised
I
I
I
stantial morbidity and mortality rates among children with C C H S . 2"4 A recent report described deaths from cor pulmonale, aspiration, or sepsis in seven of eight C C H S patients. 5 Information regarding neurodevelopmental sta-
Volume 119 Number 6
tus in surviving children is confined to one report 6 describing long-term outcome and prolonged survival of six children with CCHS, and suggesting a better physical and neurologic outcome with an improved quality of life. However, this report does not provide a detailed analysis of developmental or psychosocial factors. Thus the natural history and long-term outcome of CCHS, especially the quality of life, are not known. We therefore report medical and psychosocial outcome observed during our experience of caring for 12 children with CCHS. METHODS The diagnosis of CCHS was based on the following criteria: persistent sleeping hypoventilation (partial pressure of carbon dioxide consistently >60 mm Hg according to measurements of carbon dioxide in arterial blood drawn through an indwelling catheter or according to noninvasive measurements of end-tidal carbon dioxide obtained during polysomnography), onset of symptoms from birth or early infancy, and absence of primary pulmonary, cardiac, metabolic, or neuromuscular dysfunction. The hospital records of all children with CCHS followed at our institution were reviewed. One child who died before initial hospital discharge is mentioned in the Mortality Rate section, below, but is not included in other analyses. Pulmonary function testing. Pulmonary function tests were obtained in a standard manner. The vital capacity and its subdivisions were measured from a slow exhalation with a wedge spirometer (model 3000, Med-Science, St. Louis, Mo.). Forced vital capacity, forced expiratory volume in 1 second, forced expiratory flow in mid-expiratory (25% to 75%) phase, and maximal expiratory flow volume curves were obtained from forced expiration into the wedge spirometer. Functional residual capacity was measured with a body pressure plethysmograph (model 2800 Autobox, Sensormedics Corp., Yorba Linda, Calif.). Individual test results were analyzed and considered abnormal if they were >2 SD from available reference values appropriate for age, height, and gender. 7 Developmental assessment. Nine children with CCHS underwent developmental testing; three were not being followed at Childrens Hospital Los Angeles at the time that developmental testing was performed. The following measures were administered: 1. The children's parents completed the Conners Hyperkinesis Rating Scale, 8 a widely used scale that can assist in identifying behavior problems. It consists of a checklist of symptoms that are rated on a four-point scale. 2. A battery of psychometric tests to assess neurodevelopmental and psychoeducational function, including the following: a. Kaufman Assessment Battery for Children, 9 which
Outcome of congenital hypoventilation syndrome
889
consists of 16 subtests that combine to provide five scales to separate problem-solving ability from the acquisition of knowledge. Areas o f functioning that are assessed include mental processing abilities, sequential processing abilities, simultaneous processing abilities, achievement, and nonverbal abilities. b. Peabody Picture Vocabulary Test, l~ which measures receptive language. c. Developmental Test of Visual-Motor Integration. ~ These assessment tools were chosen because they are used widely among all socioeconomic groups. All the scaled scores have a mean of 100 and a standard deviation of 15. Standard scores >85 are considered to be within normal limits in comparison with those of the normative group. Scores between 71 and 84 indicate developmental delay, and scores 60.15 3. Coping Resources Inventory, which investigates coping resources in a population. 16 Care givers were defined as having low coping resources if they had Coping Resources Inventory total scores
