Abstract:
AIM:Our aim was to contribute new findings related to the pre-regressional verbal development of females with a variant of Rett syndrome (RTT) as the loss of spoken language is one of the key clinical features of RTT, and it would be of particular interest to study the early speech-language development of females who are considered to have preserved some speech-language abilities. METHOD:We analysed 461 minutes of audio-video recordings containing play situations and the daily routines of six females (aged 7 to 24 months; mean birthweight 3057g, SD 195g) with the preserved speech variant (PSV) of RTT. All videos were recorded by parents and analysed retrospectively after the diagnosis PSV was made. RESULTS:From the age of 7 months onwards, we observed two types of vocalizations, appearing intermittently: (1) apparently normal sequences; and (2) atypical (i.e. inhalatory, pressed, or high-pitched crying-like) vocalizations. Some participants failed to reach the milestone of canonical babbling. We observed a limited phonological and lexical complexity and a restricted compositional variability. Volubility was reduced during the whole period under observation. Hand stereotypies with simultaneous atypical vocalizations appeared only during the second year of life. INTERPRETATION:The intermittent character of normal versus abnormal verbal behaviours might contribute to an early identification of children with a possible genetic mutation, and provides evidence that speech-language functions are abnormal from the very beginning.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Marschik PB,Pini G,Bartl-Pokorny KD,Duckworth M,Gugatschka M,Vollmann R,Zappella M,Einspieler Cdoi
10.1111/j.1469-8749.2012.04123.xsubject
Has Abstractpub_date
2012-05-01 00:00:00pages
451-6issue
5eissn
0012-1622issn
1469-8749journal_volume
54pub_type
杂志文章abstract::The aim of this study was to evaluate the effects of a modified version of constraint-induced (CI) movement therapy on bimanual hand-use in children with hemiplegic cerebral palsy (CP; age range 18 mo to 4 y) and to make a comparison with conventional paediatric treatment. Twenty-one children (13 females, eight males)...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1017/s0012162205000502
更新日期:2005-04-01 00:00:00
abstract::A behavioural modification package incorporating stimulus control, cueing, and rapid-extinction techniques was applied to a group of 15 children with severe learning disability who had chronic sleep disorders. Improvements in their night-settling and night-waking patterns occurred quickly (within a few days) and, in 1...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:
更新日期:1997-08-01 00:00:00
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:AIM:The aim of this study was to review systematically evidence about the efficacy of motor interventions for children with developmental coordination disorder (DCD), and to quantify treatment effects using meta-analysis. METHOD:Included were all studies published between 1995 and 2011 that described a systematic revi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/dmcn.12008
更新日期:2013-03-01 00:00:00
abstract::The effect of spastic cerebral palsy on in vivo gastrocnemius muscle fascicle length is not clear. Similarity of fascicle lengths in children with diplegia and typically developing children, but shortening of fascicle lengths in the paretic legs of children with hemiplegia compared with the non-paretic legs, are both ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2007.02008.x
更新日期:2008-01-01 00:00:00
abstract:AIM:To evaluate the influence of supracondylar femoral derotation osteotomy (FDO) on hip abduction muscle force and frontal hip moments in children with bilateral cerebral palsy. METHOD:For this retrospective cohort study 79 children (36 females, 43 males; mean age at surgery 11y [SD 3y]; range 4-17y) with bilateral c...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14035
更新日期:2019-03-01 00:00:00
abstract:AIM:This population-based study aimed to estimate the impact of neonatal seizures on subsequent neurological outcomes, regardless of underlying etiology. METHOD:We performed a retrospective cohort study (1st January 2009-31st December 2014), using a USA nationwide claims database. Newborn infants enrolled in 2009 were...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14174
更新日期:2019-06-01 00:00:00
abstract::Total ophthalmoplegia is described in an eight-year-old boy with polyradiculitis. The findings suggest central nervous system involvement. It is postulated that this case represents an entity intermediate between the Miller-Fisher and the Landry-Guillain-Barré syndromes, with features of brain-stem encephalitis. ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1976.tb03659.x
更新日期:1976-06-01 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::The authors examined five young children with monocular vision loss who developed monocular nystagmus. The nystagmus was of fast frequency and small amplitude in all fields of gaze. In four children, successful treatment of the cause of the vision loss resulted in cessation of the nystagmus. No child showed signs of s...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1993.tb07928.x
更新日期:1993-12-01 00:00:00
abstract::We report two male Taiwanese siblings in whom the T-->C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffuse white matter an...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162207000163.x
更新日期:2007-01-01 00:00:00
abstract:AIM:The aim of this study was to describe trends in prevalence, subtypes, and severity among children with cerebral palsy (CP) born moderately preterm (MPT; (gestational age 32-36 wks) or at moderately low birthweight (MLBW; 1500-2499 g) in Europe. METHOD:We conducted trend analyses of data from 903 children with CP b...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1469-8749.2011.04079.x
更新日期:2011-10-01 00:00:00
abstract::In summary, the GMFCS has had, and continues to have, a major effect on the health care of children with CP. The number of citations of the GMFCS has been increasing every year, and the classification system has had good uptake internationally and across the spectrum of health professionals for use in research design ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1017/s0012162204000118
更新日期:2004-01-01 00:00:00
abstract::Serum thyroid hormone levels were measured in women living in an area of severe dietary iodine deficiency in a remote region of Papua New Guinea. Levels of maternal hormone were found to be related to the motor competence of the women's offspring, who were aged between six years and 11 years 10 months at the time of a...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1981.tb08448.x
更新日期:1981-02-01 00:00:00
abstract:AIM:To estimate the impact of different types of language disorders on socio-emotional development and health-related quality of life (HRQOL) in 8-year-old children. METHOD:In a prospective cohort including 13 427 newborns, of 10 911 eligible children (66 excluded because of intellectual disability or foreign language...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.2010.03794.x
更新日期:2011-01-01 00:00:00
abstract:AIM:To briefly outline the strengths and limitations of cerebral palsy (CP) registers, and to report on findings of the Australian Cerebral Palsy Register (ACPR) pertaining to a population cohort of children with CP. METHOD:De-identified data were extracted from the ACPR for people with CP in birth years 1993 to 2006,...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.13026
更新日期:2016-02-01 00:00:00
abstract::Parental report may provide an inexpensive alternative to standardized assessments of children's development. We have adapted and validated a parental questionnaire on cognitive development for use with very preterm infants. Sixty-four 2-year-olds (28 males, 36 females) born less than 30 weeks' gestation (median 28.5 ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162204000635
更新日期:2004-06-01 00:00:00
abstract::Cross-correlograms between voluntarily active soleus (SOL) and tibialis anterior (TA) motor units were generated from seven control subjects and six subjects with spastic cerebral palsy (CP). Short-duration central peaks were observed in three subjects with spastic diplegia only. All subjects demonstrated reciprocal i...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1996.tb15113.x
更新日期:1996-09-01 00:00:00
abstract::We report a longitudinal, prospective, multicentre cohort study designed to measure the outcomes of gastrostomy tube feeding in children with cerebral palsy (CP). Fifty-seven children with CP (28 females, 29 males; median age 4y 4mo, range 5mo to 17y 3mo) were assessed before gastrostomy placement, and at 6 and 12 mon...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1017/s0012162205000162
更新日期:2005-02-01 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::Serial neuropsychological examinations were made of an eight-year-old girl following diagnosis and treatment of a pineocytoma. The tumor was resected and she received intensive radiation therapy to the entire neuraxis, with a boost to the pineal region. A battery of neuropsychological tests was administered every six ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:
更新日期:1988-12-01 00:00:00
abstract::Three seizure types have been described in the neonate: electroclinical, electrographic, and clinical only. Controversy still exists about whether the episodic abnormal movements seen in some infants, which are not accompanied by simultaneous ictal discharges on the EEG, are true seizures. Twenty-four infants with sei...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162299001632
更新日期:1999-12-01 00:00:00
abstract::Modified Gubbay tests, assessing various aspects of motor performance, were administered to 885 Manchester children in mainstream primary education, and centile tables were drawn up by age. Children who had performed badly on one of the four tests were retested two years later, when they were found to have 'caught up'...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1987.tb08509.x
更新日期:1987-10-01 00:00:00
abstract:AIM:To review the evidence for behavioural interventions to reduce drooling in children with neurodisability. METHOD:A detailed search in eight databases sought studies that: (1) included participants aged 0 to 18 years with neurodisability and drooling; (2) provided behavioural interventions targeting drooling or a d...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14048
更新日期:2019-01-01 00:00:00
abstract::The aim of the study was to review the psychometric properties and use of goal attainment scaling (GAS) in paediatric rehabilitation research. We performed a critical literature review searching: (1) all studies whose main focus was to assess the psychometric properties of GAS in paediatric rehabilitation; and (2) all...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1469-8749.2007.00550.x
更新日期:2007-07-01 00:00:00
abstract:AIM:To collect preliminary functional data on ataxia telangiectasia and create a disease specific scale: the Ataxia Telangiectasia Functional Scale (ATFS). METHOD:Retrospective information on patients with ataxia telangiectasia referred to the Assistive Technology Unit was included. Functional mobility scales (the Gro...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14334
更新日期:2020-02-01 00:00:00
abstract:AIM:gastrostomy feeding children with spastic quadriplegic cerebral palsy (SQCP) improves weight gain but may cause excess deposition of body fat. This study was designed to investigate whether weight gain could be achieved without an adverse effect on body composition by using a low-energy feed in gastrostomy-fed chil...
journal_title:Developmental medicine and child neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1469-8749.2010.03789.x
更新日期:2010-12-01 00:00:00
abstract::The ambulatory status of 74 neonatal intensive care unit survivors with cerebral palsy, excluding those with central nervous system malformations and syndromes, was assessed at eight years of age. Detailed examinations were completed at two and eight years of age; of the 47 who were sitting by two years, 46 became amb...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1989.tb04072.x
更新日期:1989-12-01 00:00:00
abstract:AIM:To describe trends in walking and living independently in a cohort of consecutive cases of spina bifida, followed-up over 50 years. METHOD:From 1972 to 2017, a cohort of 117 (born 1963-1971, 50 males, 67 females) survivors and/or carers was surveyed approximately every 5 years by clinical examination and/or postal...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14168
更新日期:2019-10-01 00:00:00
abstract::The use of intramuscular alcohol in treating cerebral-palsied children has led to reduced spasticity for varying periods of time, although the periods diminish with each subsequent injection. During the period of reduced spasticity there is an opportunity for therapists and orthopaedic surgeons to determine whether co...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1980.tb04354.x
更新日期:1980-08-01 00:00:00