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PubMed1982

Minor neurodevelopmental disorders in children born to older mothers.

In order to test the hypothesis that rates of motor and perceptual deficits in children tend to increase with maternal age, 65 children aged five and six years born to mothers with a mean age of 39.4 years were compared with 55 age-matched children born to mothers with a mean age of 27.9 years. The hypothesis was supported in that fine-motor problems were five times more common among the children born to older mothers than among those born to younger mothers. Visuo-perceptual dysfunction and attentional deficit signs also were much more common among the children of older mothers. The contribution of various associated factors to these results is discussed.

Adult↗
PubMed2001

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

BACKGROUND: Angelman syndrome (AS) is a severe neurobehavioural disorder caused by defects in the maternally derived imprinted domain located on 15q11-q13. Most patients acquire AS by one of five mechanisms: (1) a large interstitial deletion of 15q11-q13; (2) paternal uniparental disomy (UPD) of chromosome 15; (3) an imprinting defect (ID); (4) a mutation in the E3 ubiquitin protein ligase gene (UBE3A); or (5) unidentified mechanism(s). All classical patients from these classes exhibit four cardinal features, including severe developmental delay and/or mental retardation, profound speech impairment, a movement and balance disorder, and AS specific behaviour typified by an easily excitable personality with an inappropriately happy affect. In addition, patients can display other characteristics, including microcephaly, hypopigmentation, and seizures. METHODS: We restricted the present study to 104 patients (93 families) with a classical AS phenotype. All of our patients were evaluated for 22 clinical variables including growth parameters, acquisition of motor skills, and history of seizures. In addition, molecular and cytogenetic analyses were used to assign a molecular class (I-V) to each patient for genotype-phenotype correlations. RESULTS: In our patient repository, 22% of our families had normal DNA methylation analyses along 15q11-q13. Of these, 44% of sporadic patients had mutations within UBE3A, the largest percentage found to date. Our data indicate that the five molecular classes can be divided into four phenotypic groups: deletions, UPD and ID patients, UBE3A mutation patients, and subjects with unknown aetiology. Deletion patients are the most severely affected, while UPD and ID patients are the least. Differences in body mass index, head circumference, and seizure activity are the most pronounced among the classes. CONCLUSIONS: Clinically, we were unable to distinguish between UPD and ID patients, suggesting that 15q11-q13 contains the only significant maternally expressed imprinted genes on chromosome 15.

Adult↗
PubMedDate not supplied

Boys with reading disabilities and/or ADHD: distinctions in early childhood.

We examined distinctions in the early childhood characteristics of boys with reading disabilities (RD) and/or attention-deficit/ hyperactivity disorder (ADHD). A four-group mixed design consisting of boys identified at age 11 with reading disabilities only (RD only; n = 46), reading disabilities and ADHD (RD/ADHD; n = 16), ADHD only (n = 20), and a comparison group (n = 281) was utilized. Differences on receptive and expressive language and temperament for ages 3 and 5 were investigated. Analyses indicated that the boys from the RD-only group performed worse on measures of receptive and expressive language. The results also indicated that boys from the RD/ADHD groups consistently performed worse on measures of receptive language and exhibited more behaviors indicative of an undercontrolled temperament. In summary, we suggest that reading disabilities and ADHD represent moderately unique disorders that frequently co-occur and are characterized by distinct developmental pathways.

Attention Deficit Disorder with Hyperactivity↗
PubMedDate not supplied

Temporal resolution of auditory perception in relation to perception, memory, and language skills in typical children.

This study examined temporal resolution of auditory perception (TRAP) in relation to speech perception and phonological working memory in one experiment and in relation to measures of rapid naming, understanding of grammatical contrasts, and phonological awareness in a second experiment. In the TRAP test, 6- to 9-year-old children discriminated four pairs of two sine tones, 878 Hz and 1350 Hz, presented in blocks with stepwise decreasing interstimulus intervals from 256 ms to 8 ms. In Experiment 1, weak but significant correlations between TRAP and speech perception and phonological working memory were found, as well as a significantly lower TRAP performance by girls. Experiment 2 indicated a significant relation between TRAP and the phonological awareness task. The results give qualified support to the notion of a weak relationship between TRAP and speech perception and language skills among typical children. However, the gender differences in TRAP performance, the limited variance explained by the regression models, and the finding that only one of the language parameters correlated with TRAP do not support the notion of a causal relationship between language skills and TRAP. The possibility that TRAP is connected to general neurological maturation rather than specifically to language abilities is discussed.

Auditory Perceptual Disorders↗
PubMed2005

The nature and frequency of cognitive deficits in children with neurofibromatosis type 1.

OBJECTIVE: To assess the frequency and severity of specific cognitive deficits in children with neurofibromatosis type 1 (NF1) in a large unbiased cohort. METHODS: Extensive cognitive assessments were performed in 81 children with NF1 ages 8 to 16 years and their performance was compared with that of 49 unaffected sibling controls. RESULTS: Eighty-one percent of the children with NF1 had moderate to severe impairment in one or more areas of cognitive functioning. Although 51% of children with NF1 performed poorly on tasks of reading, spelling, and mathematics, specific learning disabilities (as defined by IQ-achievement discrepancies) were present in only 20% of the children. Sustained attention difficulties were present in 63% of children with NF1, with 38% of children with NF1 fulfilling the diagnostic criteria for attention deficit-hyperactivity disorder. The NF1 neuropsychological profile is characterized by deficits in perceptual skills (visuospatial and visuoperceptual), executive functioning (planning and abstract concept formation), and attention (sustained and switching). Interestingly, both verbal and visual memory was unaffected in NF1 children, and their memory skills were in general stronger than their level of general intellectual function. Although both expressive and receptive language skills were significantly impaired in NF1 children, they appeared to be relatively better preserved than visuospatial abilities once IQ is taken into account. CONCLUSION: There is an extremely high frequency of cognitive problems in children with neurofibromatosis type 1, making cognitive dysfunction the most common complication to affect quality of life in these children.

Adolescent↗
PubMedDate not supplied

[Severity of phonological disorders: perceptual judgment and percentage of correct consonants].

BACKGROUND: Phonological disorder. AIM: To apply the percentage of correct consonant (PCC) index and to verify the correlation between this index and the one applied perceptually by judges. METHOD: The PCC index of 50 phonological disordered subjects was calculated, after 60 judges heard the phonological tests for each subject and perceptually attributed the severity. RESULTS: The PCC index varied from 40% to 98%, with the predominant classification of the population in the mild and mild-moderate levels. CONCLUSION: A correlation between the perceptual judgment and the PCC indexes exists.

Analysis of Variance↗
PubMed1998

Babbling of an infant with a repaired cleft lip: a case study.

The infant born with a cleft lip is faced with risk factors that threaten the development of speech-language skills. The earlier the age of identification and management of the developmental delay, the better the outcome. The attainment of the mature syllable is considered to be a critical measure of babbling competency. This single case study aimed to determine whether the formedness of the syllable in babbling would be affected by the cleft lip repaired prior to the onset of meaningful speech. Three samples of babbling in a naturalistic environment were video-recorded. Data was analysed following the principles of infraphonology, employing a perceptually-based method. A profile of infraphonological features was obtained. Results showed that the development of the mature syllable was attained. The results support the theories that babbling is a robust phenomenon. Clinical and research implications are discussed.

Child Language↗
PubMed1999

[Language in autistic disorders].

Autism is a developmental disorder affecting social relationships, communication and flexibility of thought. These three basic aspects of autism may present in many different forms and degrees. Therefore autism should be considered to be a spectrum of autistic disorders rather than a single strictly defined condition. The spectrum of autistic disorders extends from intelligent individuals with acceptable social integration, to severely retarded patients with scarcely any social interaction. Language is almost always affected either in its formal aspects or in its usage. Autistic linguistic disorders form a specific language disorder (developmental dysphasia) and a pragmatic disorder linked both to the primary language problem and to the social cognitive deficit. We discuss the different linguistic syndromes observed in autistic patients with special emphasis on the semantic-pragmatic disorder.

Asperger Syndrome↗
PubMed1987

[Reproduction of picture stories by autistic, learning disordered and normal children].

Autistic, learning disabled and young normal children (9 each) matched for mental age were shown 6 sets of picture cards and asked to answer questions about the pictures, arrange the cards in the correct sequence and tell the story. The picture descriptions and the stories the children told were analyzed with reference to the concept of story schemes to identify the comprehension deficits peculiar to the autistic group. The autistic children had great difficulty in making the correct associations between the different elements of the action sequences and in recognizing the motives of the interacting persons.

Adolescent↗
PubMed1996

The association between language and symbolic play at two years: evidence from deaf toddlers.

The association between expressive language and symbolic play was investigated in 3 groups of 2-year-olds: deaf children with hearing parents (dH), deaf children with deaf parents (dD), and hearing children with hearing parents (hH). (Each group included 6 girls and 4 boys.) 3 language-level groups were defined. The highest group was well into the vocabulary "explosion" and frequently produced multiword/sign utterances; a middle group was beginning the period of vocabulary expansion and occasionally produced utterances of more than 1 word/sign; a third group produced single word/sign utterances only, and had a limited vocabulary. Hearing status was associated with duration of symbolic play (deaf > hearing). Higher language levels were associated with more canonically sequenced and preplanned play, even when language delays were due to exogenous factors.

Child, Preschool↗
PubMedDate not supplied

[Specific developmental language disorder: a theoretical approach to its diagnosis, aetiology and clinical symptoms].

AIM: This article presents an updated review about the definition, diagnostic criteria, classifications, etiology and the evolution of the specific language impairment (SLI). DEVELOPMENT: The specific language impairment is characterized by a developmental language delay and an impaired language, that persist over time and it is not explained by sensorial, motor and mental disabilities, neither by psycopathological disorders, socio-emotional deprivation, nor brain injury. The diagnosis is based on exclusional criteria. Some researchers propose different classifications considering the children performance in language comprehension and language production. Genetical linkage to the FOXP2 gen in the SPCH1 region of the chromosome 7 and to the chromosomes 13, 16 y 19 has been reported. The neuroimage studies have shown alterations in the volume and perfusion of some brain structures related to language. The manifestations of SLI may change during the development of the children and may disturb the self-esteem, the academic performance and the social abilities. CONCLUSIONS: The variability in the linguistic and cognitive performance, and the variety in the etiological findings in children with SLI, don't allow to settle the affected population as an homogeneous group. Different theoretical positions have emerged as a consequence of this condition.

Cognition↗