Abstract:
AIM:In female children with drug-resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the CDKL5 gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present in Rett syndrome, whereas little is known in patients with CDKL5 mutations. METHOD:In four genetically confirmed female patients with CDKL5 mutations (age range 2-15 y), the presence of breathing and sleep abnormalities was evaluated using the validated Sleep Disturbance Scale for Children and polysomnography (PSG). RESULTS:The Sleep Disturbance Scale for Children indicated disorders of initiating and maintaining sleep, daytime somnolence, and sleep breathing disorders. In one patient, PSG showed central apnoeas during sleep: her total apnoea-hypopnoea index (AHI) was 4.9, of which the central AHI was 3.4/h. When awake, central apnoeas were present in two of the four female children (central AHI 28/h and 41/h respectively), all preceded by hyperventilation. PSG showed low rapid eye movement (REM) sleep (9.7-18.3%), frequent awakenings, and low sleep efficiency (range 59-78%). INTERPRETATION:Episodic hyperventilation followed by central apnoeas was present while awake in two of four patients. This may indicate failure of brainstem respiratory centres. In addition, low REM sleep, frequent arousals (not caused by apnoeas/seizures), and low sleep efficiency were present. Similar to Rett syndrome, in patients with CDKL5 mutations PSG seems warranted to evaluate breathing and sleep disturbances.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Hagebeuk EE,van den Bossche RA,de Weerd AWdoi
10.1111/j.1469-8749.2012.04432.xsubject
Has Abstractpub_date
2013-05-01 00:00:00pages
480-4issue
5eissn
0012-1622issn
1469-8749journal_volume
55pub_type
杂志文章abstract::Children with physical disabilities are at increased risk of limitations to participation in everyday activities. This study describes research examining the participation of children in day-to-day formal and informal activities (excluding mandated academic schooling). Using the Children's Assessment of Participation ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206000740
更新日期:2006-05-01 00:00:00
abstract::The purpose of this study was to analyze retrospectively which neuromotor behaviors in a sample of four-month-old low-birthweight infants were most predictive of later cerebral palsy. The infants were evaluated at four months corrected age on the Movement Assessment of Infants (MAI) and were followed to between three ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1987.tb02511.x
更新日期:1987-08-01 00:00:00
abstract::This study investigated the effect of chronic exposure to lead on children's ability to maintain upright postural balance as a biological marker of lead-induced modifications of the neuromotor system. For this study, 162 six-year-old children, with a five-year geometric mean lead concentration in blood of 11.9 microgr...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1995.tb11939.x
更新日期:1995-10-01 00:00:00
abstract::The aim of the study was to determine audiological function at 14 years of age of very-low-birthweight (VLBW < or = 1500 g) children compared with a cohort of normal birthweight (NBW > 2499 g) children. Participants were consecutive surviving preterm children of birthweight < 1000 g born between 1977 and 1982 (n=86) a...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:
更新日期:2001-03-01 00:00:00
abstract:AIM:The aim of this study was to determine the reliability, validity, and optimal placement of pedometers in children with cerebral palsy (CP) who ambulate without aids. METHOD:Seventeen participants aged 7 to 17 years with CP (eight males, nine females; mean age 12y 4mo; SD 3y 2mo), who could ambulate without aids, w...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12181
更新日期:2013-09-01 00:00:00
abstract::Differentiating a sudden-onset concomitant squint from a paralytic squint in an ill child can be difficult, but the distinction is important in view of the neurological implications of the latter. Furthermore, the two types may co-exist, and four such cases are described. The causes of sudden-onset squint are discusse...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1987.tb02137.x
更新日期:1987-04-01 00:00:00
abstract:AIM:Dodd's Model for Differential Diagnosis is one of the available clinical diagnostic classification systems of childhood speech sound disorders. Yet we do not understand the validity of this system beyond clinical samples, precluding its application in epidemiological or population-based research. This study aimed t...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13993
更新日期:2019-06-01 00:00:00
abstract::Minor neurological dysfunctions (MND) have frequently been reported as an outcome of preterm birth. Behavioural and learning difficulties are a known feature, but coordination problems are especially described in preterm infants at later ages. All preterm infants in our study were born with a gestational age of <32 we...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201002298
更新日期:2002-06-01 00:00:00
abstract::The developmental level and nutritional status of a group of 17 children aged between six and 24 months who were admitted to hospital with severe protein-energy malnutrition were studied from admission to hospital until 36 months after returning home. They were compared with a group of 14 adequately nourished children...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1982.tb13624.x
更新日期:1982-06-01 00:00:00
abstract:AIM:To explore associations between clinical variables and decline in motor capacity in adolescents with cerebral palsy (CP). METHOD:Participants included 76 males and 59 females, whose mean age at the beginning of the study was 14 years 6 months (SD 2.4, range 11.6-17.9); 51 at Gross Motor Function Classification Sys...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2010.03632.x
更新日期:2010-07-01 00:00:00
abstract::Botulinum toxin A (BTX-A) is increasingly being used in early management of spasticity in ambulant children with cerebral palsy (CP), with the aim of improving function, promoting muscle growth, and delaying the need for surgical intervention. However, there is a lack of evidence about the long-term outcome of BTX-A i...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1017/S0012162205001453
更新日期:2005-10-01 00:00:00
abstract:AIM:To elucidate the relation between motor impairment and other developmental deficits in very preterm-born children without disabling cerebral palsy and term-born comparison children at 5 years of (corrected) age. METHOD:In a prospective cohort study, 165 children (81 very preterm-born and 84 term-born)were assessed...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12295
更新日期:2014-06-01 00:00:00
abstract::A three-year cohort of extremely low-birthweight (ELBW, less than 1000g) survivors born between 1st January 1979 and 31st December 1981 were followed prospectively at one, two and five years of age, corrected for preterm birth. 57 of 110 infants survived, and 53 children were still alive at five years. The diagnoses o...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb08542.x
更新日期:1990-07-01 00:00:00
abstract:AIM:We evaluated the level of evidence of speech, language, and communication interventions for infants at high-risk for, or with a diagnosis of, cerebral palsy (CP) from 0 to 2 years old. METHOD:We performed a systematic review of relevant terms. Articles were evaluated based on the level of methodological quality an...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.13342
更新日期:2017-04-01 00:00:00
abstract::Motor deficits in cerebral palsy (CP) have been well documented; however, associated sensory impairment in CP remains poorly understood. We examined tactile object recognition in the hands using geometric shapes, common objects, and capital letters. Discrimination of tactile roughness was tested using paired horizonta...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2008.03105.x
更新日期:2008-11-01 00:00:00
abstract::High rates of neurological complications related to congenital HIV infection have been reported, but often it has been difficult to delineate those clinical impairments specifically related to viral infection of the developing nervous system. The present study attempted to hold causative environmental factors constant...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb08123.x
更新日期:1990-11-01 00:00:00
abstract::The thyroid function and health status of 101 children with Down syndrome were assessed annually for five years. One child had congenital hypothyroidism at entry to the study. During the study period, eight more developed compensated hypothyroidism. Five of 10 children with compensated hypothyroidism still had the con...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1993.tb11660.x
更新日期:1993-05-01 00:00:00
abstract::The developing brain in utero and during the first years of life is highly vulnerable to environmental influences. Experiences occurring during this period permanently modify brain structure and function through epigenetic modifications (alterations of the DNA structure and chromatin function) and consequently affect ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.14182
更新日期:2019-10-01 00:00:00
abstract::The objective of this study was to examine the descriptive epidemiology of vision impairment among 6- to 10-year-old children in metropolitan Atlanta, Georgia, USA. Children with vision impairment (n=310; 42% black, 56% white; 57% male, 43% female), defined as a best corrected visual acuity in the better eye of 20/70 ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201002523
更新日期:2002-08-01 00:00:00
abstract::Anxiety disorders are a leading cause of morbidity and entail a lot of costs. Adolescence is characterized by social fears and poor emotion regulation abilities which together increase the likelihood of the emergence of anxiety disorders. This emotion dysregulation is potentially caused by the emotion regulating brain...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/dmcn.14611
更新日期:2020-11-01 00:00:00
abstract::Rud syndrome is a rare disorder of childhood characterized by ichthyosis, mental retardation, epilepsy and hypogonadism. The authors report a family with this autosomal recessive disorder, review the clinical and dermatopathological findings, and contrast Rud syndrome with the other major neuro-ichthyosiform dermatose...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1985.tb04545.x
更新日期:1985-06-01 00:00:00
abstract::Dynamic electromyography was used to examine the activity of muscles of 26 children with varus hindfoot deformities as a result of spastic cerebral palsy. Four different patterns of inappropriate muscle activity involving the tibialis anterior, tibialis posterior, gastrocnemius and soleus were seen during walking. Dyn...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1984.tb04411.x
更新日期:1984-02-01 00:00:00
abstract:AIM:Cerebral palsy (CP) is a poorly understood disorder with no cure. We determined the landscape of National Institutes of Health (NIH) funding for CP-related research. METHOD:We searched NIH databases Research Portfolio Online Reporting Tools Expenditures and Results, and Research, Condition, and Disease Categorizat...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.12789
更新日期:2015-10-01 00:00:00
abstract::This study examined the social and academic implications of mainstream, mainstream and special (combined) or special-class education for 31 adolescents with spina bifida, and for their primary caretakers. The Peabody Picture Vocabulary Test and the UCLA Loneliness Scale (adolescents) and the Personality Inventory for ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1990.tb08463.x
更新日期:1990-01-01 00:00:00
abstract::The efficacy of repeated botulinum toxin A (BTX-A) injections in two and three dose regimes, together with occupational therapy, on upper limb movement and function, was studied using an evaluator blinded, randomized, controlled two-group trial. Forty-two children (31 males, 11 females; range 2-8 y, mean 4 y [SD 1 y 7...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1469-8749.2007.00823.x
更新日期:2007-11-01 00:00:00
abstract:AIM:To assess outcome for children with severe neurological impairment receiving invasive mechanical ventilation for respiratory failure. METHOD:Medical charts for all such children treated in our intensive care unit (ICU) between January 2003 and July 2008 were reviewed. Outcomes were compared with those for children...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2009.03582.x
更新日期:2010-05-01 00:00:00
abstract::A 16-year-old girl with severe mental retardation of unknown aetiology presented with increased blood content of lactate and pyruvate. It was demonstrated that the biochemical abnormalities were due to hyperventilation. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1976.tb03633.x
更新日期:1976-04-01 00:00:00
abstract::Three groups of children with communication disorders were examined using a series of psycholinguistic markers to explore whether the tasks could identify children with impairments other than specific language impairment (SLI), and to examine whether the different groups within this clinical population could be distin...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162203000963
更新日期:2003-08-01 00:00:00
abstract::An infant with subacute necrotising encephalopathy is described, in whom slow motornerve conduction velocities suggested the presence of peripheral neuropathy. Peripheral nerves are not invariably involved in patients with this disease, but as they are involved in thiamine-deficiency states it is conjectured that the ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1975.tb03529.x
更新日期:1975-10-01 00:00:00
abstract::Neurological integrity in sick children is difficult to assess clinically. The aim of this study was to determine the predictive value of EEG activity recorded with a bedside EEG analysing monitor in an intensive care unit. EEG activity was monitored in 108 children (age range 2 weeks to 16 years, median 1.7 years) co...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162201000159
更新日期:2001-02-01 00:00:00