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PubMed2005

Expressive language in children with Kabuki syndrome.

Since the description of Kabuki syndrome in 1981 over 300 cases from a variety of countries have been reported. Only a limited number of these reports, however, provided data on speech language development. Ghent University Hospital (J. Van Borsel, T. Defloor) and the Department of Clinical Genetics, Academic Hospital Maastricht (C.T.R.M. Schrander-Stumpel, L.M.G. Curfs) are directing research on the specific nature of communicative development in persons with Kabuki syndrome. The aim of the present study was to delineate the language difficulties in the syndrome. The subjects were six Dutch-speaking children (three male, three female), with chronological age ranging from 4.4 to 10.6 years (mean = 8.1). Spontaneous speech samples were collected, subjected to a consensus orthographic transcription, and analyzed by means of TOAST [Moerman-Coetsier and Van Besien, 1987], a Dutch standardized diagnostic instrument to investigate different aspects of spontaneous language production. In all the children, expressive language abilities were impaired. Poor morphosyntactic abilities were consistently demonstrated. Lexical and pragmatic difficulties were also present, whereas phonological development was less often affected.

Abnormalities, Multiple↗
PubMed1975

Age and type of onset as critical variables in early infantile autism.

A retrospective study of 131 autistic children was made in which 2 groups, Natal and Acquired, were defined on the bases of age at onset and type of onset. Prenatal and perinatal variables were found to be significantly related to Natal onset, whereas in the Acquired group the significant variables were those occurring in early childhood, between years 1 and 3. Follow-up data on intellectual functioning and language development indicated a better prognosis for the Acquired group. An inability to cope with stress is postulated as an underlying feature in both instances, present from birth in the Natal group and occurring in the face of developmental stresses in the Acquired group.

Adaptation, Psychological↗
PubMed2003

Triphalangeal thumb and psychomotor retardation: a new association?

The triphalangeal thumb (TPT) is a rare malformation in which the thumb is presented as a long digit of three phalanges. We describe two brothers showing TPT and psychomotor retardation, especially in language. Difficulties in language development were also observed in children with TPT in another study. The coexistence of TPT and psychomotor retardation in those patients and in the two patients described here suggests that TPT and psychomotor retardation could be part of a syndromic association not described previously.

Child, Preschool↗
PubMed1996

Situational versus pervasive hyperactivity in a community sample.

Groups of home and school situational hyperactive primary schoolboys identified from the community were compared with pervasive hyperactive and non-hyperactive controls on a wide range of measures. The hyperactive groups tended to persist in the same category over a half-year period. Both situational hyperactive groups had lower measured activity levels than the pervasive hyperactive group and only the latter differed from non-hyperactive controls. Home hyperactivity was characterized by poor family relationships and was not distinguishable from non-hyperactive home-antisocial controls. School hyperactive boys had specific correlates of low intelligence, motor clumsiness, poor reading and academic abilities. Pervasive hyperactive subjects differed from both situational groups in showing a higher percentage of delayed language development. While home hyperactivity has dubious identity, the distinct pattern of external correlates in school and pervasive hyperactivity speak for the need to regard these as separate entities.

Attention Deficit Disorder with Hyperactivity↗
PubMed2001

Neurodevelopment of adopted children exposed in utero to cocaine: the Toronto Adoption Study.

BACKGROUND: Published studies of children's neurodevelopment after in utero exposure to cocaine have not separated intrauterine from postnatal environmental effects as cocaine-using mothers cluster in low socioeconomic classes and have other risk factors. METHODS: To overcome this limitation, a study was done to assess physical and neurodevelopmental characteristics of 52 children: 26 were adopted by parents who sought counselling in the Motherisk Program at the University of Toronto for prenatal cocaine exposure, and 26 were controls matched for maternal intelligence quotient (IQ), socioeconomic status and gestational age. MAIN OUTCOME MEASURES: Head circumference, McCarthy General Cognitive Index (GCI) score, language performance and temperament tests. RESULTS: The children in the study group had smaller head circumferences (34th versus 54th percentiles p = 0.009), lower McCarthy GCI scores (102.8 versus 114.2, p = 0.02), poorer receptive and expressive language performance on the Reynell test, and higher activity levels, less persistence and increased distractibility on temperament tests. On multivariate analysis, cocaine exposure was significantly (p = 0.001) associated with lower IQ and poorer language development independent of intrauterine growth retardation and other potential confounders. INTERPRETATION: By controlling for postnatal environmental factors, this adoption study documents intrauterine developmental risks associated with cocaine exposure. Follow-up into school years is warranted to evaluate the extent of these effects.

Adoption↗
PubMed1989

Direction of gaze and emergence of speech in the second year.

Orienting to the right member of a pair of identical pictures increased monotonically with age in a longitudinal sample of 14 infants seen monthly from 13 to 22 months. The magnitude of the correlation between this orientation bias and a measure of language development also rose with age reaching a peak at 20 months and then declining. It was suggested that the acceleration of vocabulary and maturational changes in the central nervous system that occur between 16 and 22 months are associated with a special excitatory state in the temporal cortex of the left hemisphere.

Dominance, Cerebral↗
PubMed1994

Compliance with parental prohibition in autistic children.

In a controlled observational study of young autistic children ages 3 to 5, responses to parental prohibition were compared to those of mental-age-matched mentally retarded and normal children. The children were prohibited from eating a candy offered to them by the experimenter. Behavioral response, affect, and gaze patterns were compared across the three groups. Autistic children exhibited significantly less compliant behavior than did children in the two control groups; this behavior correlated with chronological age, not with mental age, language development, or parental behavior. Although affect and gaze patterns of the autistic children were different from the controls, these patterns were not correlated with compliant behavior. In conclusion, when compared to mental-age-matched control groups, autistic children are significantly less compliant to parental prohibition and they show different gaze and affect patterns.

Affect↗
PubMed1978

A study of six cases of de Lange Amsterdam dwarf syndrome, with special attention to voice, speech and language characteristics.

From a survey of southern Scotland, six severly handicapped subjects (age-range 8 to 22 years) were established by firm criteria as suffering from the de Lange Amsterdam Dwarf syndrome. They showed a high incidence of behaviour disturbance. Language development was retarded and all but one of the subjects were dysphonic. A connection may exist between the glottal "fry" (an unperiodical phonation of the vocal folds in a frequency below the normal pitch register) observed in the cries of the younger non-speaking cases and the hoarseness in the speech of the older subjects.

Adolescent↗
PubMed1999

Central deafness in a young child with Moyamoya disease: paternal linkage in a Caucasian family: two case reports and a review of the literature.

A case of 'central deafness' is presented in a 3-year-old male Caucasian child with Moyamoya disease (MMD); a rare, progressive and occlusive cerebrovascular disorder predominantly affecting the carotid artery system. Documentation of normal peripheral auditory function and brainstem pathway integrity is provided by acoustic admittance, otoacoustic emission and brainstem auditory evoked potential measurements. The lack of behavioral response to sound, and absent middle and long latency auditory evoked potentials suggest thalamo-cortical dysfunction. Magnetic resonance imaging showed diffuse ischemic damage in subcortical white matter including areas of the temporal lobes. In addition, there were multiple and focal cortical infarctions in both cerebral hemispheres, focused primarily in the frontal, parietal and temporal areas. Taken together, these structural and functional abnormalities in addition to severely delayed speech and language development are consistent with the diagnosis of central deafness and suggest a disconnection between higher brainstem and cortical auditory areas. The child's father also has MMD, but was diagnosed only recently. The presence of paternal linkage is informative since it rules out x-linked recessive and maternal inheritance. To our knowledge, this represents the first documented case of paternal linkage in MMD with central deafness in a Caucasian child with no apparent Japanese ancestry. Herein, we focus on central auditory dysfunction and consider how lesion-induced changes have contributed to a deficit in basic auditory responsiveness, including a severe disturbance in receptive and expressive auditory-based speech and language skills.

Adult↗
PubMed1990

Cornelia de Lange syndrome. Otolaryngologic manifestations.

Cornelia de Lange syndrome (CDLS) is characterized by multiple congenital malformations and mental retardation. New studies have documented otolaryngologic abnormalities. We examined 45 patients with CDLS. Virtually all had hearing loss, and most had impaired language development. Other otolaryngologic abnormalities, including external auditory canal stenosis and cleft palate, were also common. Because of the high incidence of otolaryngologic abnormalities, and the need for early intervention, it is important for otolaryngologists to recognize CDLS manifestations in the head and neck.

Adolescent↗
PubMed1999

Auditory neuropathy and a mitochondrial disorder in a child: case study.

A child was referred for an audiologic evaluation, to include auditory brainstem evoked response testing, due to inconsistent responses to sound and delayed speech and language development. Results were characteristic of auditory neuropathy. In view of subsequent decline in motor function, a genetics evaluation was conducted, revealing a mitochondrial disorder. A brief overview of mitochondrial genetics in association with hearing loss is presented. The patient's audiologic profile is described and the implications for management are discussed.

Acoustic Stimulation↗
PubMed2002

Evidence for early-childhood, pan-developmental impairment specific to schizophreniform disorder: results from a longitudinal birth cohort.

BACKGROUND: Childhood developmental abnormalities have been previously described in schizophrenia. It is not known, however, whether childhood developmental impairment is specific to schizophrenia or is merely a marker for a range of psychiatric outcomes. METHODS: A 1-year birth cohort (1972-1973) of 1037 children enrolled in the Dunedin Multidisciplinary Health and Development Study was assessed at biennial intervals between ages 3 and 11 years on emotional, behavioral, and interpersonal problems, motor and language development, and intelligence. At age 11 years, children were asked about psychotic symptoms. At age 26 years, DSM-IV diagnoses were made using the Diagnostic Interview Schedule. Study members having schizophreniform disorder (n = 36 [3.7%]) were compared with healthy controls and also with groups diagnosed as having mania (n = 20 [2%]) and nonpsychotic anxiety or depression disorders (n = 278 [28.5%]) on childhood variables. RESULTS: Emotional problems and interpersonal difficulties were noted in children who later fulfilled diagnostic criteria for any of the adult psychiatric outcomes assessed. However, significant impairments in neuromotor, receptive language, and cognitive development were additionally present only among children later diagnosed as having schizophreniform disorder. Developmental impairments also predicted self-reported psychotic symptoms at age 11 years. These impairments were independent of the effects of socioeconomic, obstetric, and maternal factors. CONCLUSIONS: The results provide evidence for an early-childhood, persistent, pan-developmental impairment that is specifically associated with schizophreniform disorder and that predicts psychotic symptoms in childhood and adulthood.

Adolescent↗
PubMed1993

Teaching prereading skills to disabled children.

A Swedish survey suggests that less than 10% of children with Down's syndrome between 7 and 10 years of age are able to read a simple text. Children with Down's syndrome in a programme for early language intervention show clear progress in reading ability. The programme focuses on general language development, auditory and visual perception, and fine-motor ability. Prereading skills are stimulated in a systematic way such as identifying and discriminating sound-patterns at the level of the word, the syllable and the segments, and children are helped to categorize forms, to discriminate and understand pictures, to recognize the direction of reading, and to realize the grapheme-phoneme correspondence.

Child↗
PubMed1998

The long-term course of autistic disorders: update on follow-up studies.

The majority of children with autism show deviance and socially or psychiatrically handicapping conditions throughout life. Only a small proportion of those with classical childhood autism lead independent adult lives. Others, particularly those with 'high-functioning' autism and so-called Asperger syndrome will improve enough to live an independent adult life. The level of mental retardation and other comorbid conditions (such as medical syndromes and other neuropsychiatric disorders, including epilepsy) is important in predicting outcome. An IQ below 50 around school age predicts severe restriction of social and adaptive functioning in adult life. The absence of communicative speech at 5-6 years of age is indicative of a poorer long-term overall outcome. There is a clear co-variation between IQ and level of communication, but probably there is some prognostic factor in language development apart from this. Measures of flexibility and cognitive shifting abilities tend to be good predictors of social outcome in a few studies. There is a continued need for prospective, longitudinal studies of children with autism spectrum disorders, particularly in Asperger syndrome. The role of interventions of various kinds needs to be addressed in such studies.

Activities of Daily Living↗
PubMed1999

Speech and language skills in children who required neonatal intensive care: evaluation at 6.5 y of age based on interviews with parents.

Speech and language skills at 6.5 y of age were studied in a follow-up of a cohort of children who had required neonatal intensive care (NIC) at Uppsala University Children's Hospital. An interview with the parents indicated that preterm and full-term NIC children were older than control children when they reached certain stages in language development (short sentences, intelligible speech). Absence of babbling was more common in NIC children born at 23-27 wk than in other preterm NIC children, and occurrence of stuttering was more commonly noticed in preterm NIC children born at 23-27 wk than in those born at >32 wk and controls.

Apgar Score↗
PubMed1996

Infantile spasms: III. Prognostic implications of bitemporal hypometabolism on positron emission tomography.

Positron emission tomography (PET) of brain glucose utilization is highly sensitive in detecting focal cortical abnormalities in patients with infantile spasms even when the computed tomographic (CT) and magnetic resonance imaging (MRI) scans are normal. Of 110 infants with spasms evaluated for potential surgical intervention during an 8-year period, we encountered 18 infants (7 males, 11 females; age range, 10 mo to 5 yr) with a common metabolic pattern on positron emission tomography (PET) consisting of bilateral hypometabolism in the temporal lobes. CT and MRI scans did not reveal any focal abnormalities in the 18 infants. Video-electroencephalographic monitoring indicated either bilateral or multifocal epileptogenicity, or failed to show any epileptic focus, so that none of the 18 infants were considered candidates for resective surgery. These patients were then enrolled in a prospective study aimed at determining long-term outcome in the presence of bilateral temporal PET hypometabolism. Analysis of outcome in 14 of the 18 subjects (follow-up period, 10 mo to 10 yr 5 mo; mean, 3 yr 11 mo +/- 2 yr 4 mo [SD]) revealed the following: (1) all had severe developmental delay and had failed to gain significant milestones; (2) language development had been minimal or absent; (3) 10 of the 14 met the DSM-IV criteria for autistic disorder. Our findings indicate that patients with infantile spasms and bitemporal glucose hypometabolism on PET comprise a relatively homogeneous group and are typically not candidates for cortical resection. The long-term outcome of these infants is particularly poor and the majority are autistic.

Autistic Disorder↗
PubMed1990

The choice of a balanced allocation method for a clinical trial in otitis media with effusion.

We review the choice of treatment allocation procedures in a specific small clinical trial of the effect of tympanostomy tubes on language development in patients with otitis media with effusion. The options for balanced allocation available at the planning stage are discussed. A clearly favourable method could not be identified. A simulation study was performed, and its results demonstrated least imbalance with the variance method. In practice this method produced considerable imbalance on relevant prognostic factors.

Child, Preschool↗
PubMed2003

Physical aggression and expressive vocabulary in 19-month-old twins.

In the prevention of physical aggression, possible etiological links with language development are rarely taken into account. Indeed, little is known about when language and aggressive behavior become linked during development and which mechanisms are responsible for this association. This study investigated the association between physical aggression and language in late infancy with a genetic design that involved 562 19-month-old twins. A modest but significant correlation (r = -.20) was found between physical aggression and expressive vocabulary. Substantial heritability was found for physical aggression. Quantitative genetic modeling suggests that the correlation between expressive vocabulary and physical aggression cannot be explained by shared etiologies. However, phenotype-to-phenotype models indicate that the covariation can be entirely accounted for by a significant phenotypic path from expressive vocabulary to physical aggression. The implications of these results for early prevention of chronic physical aggression are discussed.

Aggression↗