1/9. Three young children with smith-magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms.We report on the development and behaviour of three young children with smith-magenis syndrome (SMS), del 17p11.2. The behaviour problems and the psychomotor delay in preschool children with SMS are often more striking than the dysmorphic features and can serve as a useful clue to the diagnosis. We compare the behaviour with reported data. The behaviour problems in the three four year olds include very demanding behaviour, severe temper tantrums, hyperactivity, aggressive behaviour, self injurious behaviour, sleeping problems and stereotypic behaviour. head banging, hand, wrist or finger biting are present. Onychotyllomania is not observed. Insertion of objects in the mouth as well as excessive nose picking is very frequent, although polyembolokoilomania is not present. The so called self hug when excited is present in one child. The behaviour problems and psychomotor delay represent a major management problem for the parents.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
2/9. Disordered recognition of facial identity and emotions in three Asperger type autists.In this report we aim to explore severe deficits in facial affect recognition in three boys all of whom meet the criteria of Asperger's syndrome (AS), as well as overt prosopagnosia in one (B) and covert prosopagnosia in the remaining two (C and D). Subject B, with a familially-based talent of being highly gifted in physics and mathematics, showed no interest in people, a quasi complete lack of comprehension of emotions, and very poor emotional reactivity. The marked neuropsychological deficits were a moderate prosopagnosia and severely disordered recognition of facial emotions, gender and age. Expressive facial emotion, whole body psychomotor expression and speech prosody were quasi absent as well. In all three boys these facial processing deficits were more or less isolated, and general visuospatial functions, attention, formal language and scholastic performances were normal or even highly developed with the exception of deficient gestalt perception in B. We consider the deficient facial emotion perception as an important pathogenetic symptom for the autistic behaviour in the three boys. prosopagnosia, the absent facial and bodily expression, and speech prosody were important but varying co-morbid disorders. The total clinical picture of non-verbal disordered communication is a complex of predominantly bilateral and/or right hemisphere cortical deficits. Moreover, in B, insensitivity to pain, smells, noises and internal bodily feelings suggested a more general emotional anaesthesia and/or a deficient means of expression. It is possible that a limbic component might be involved, thus making affective appreciation also deficient.- - - - - - - - - - ranking = 0.076923076923077keywords = behaviour (Clic here for more details about this article) |
3/9. The use of the ADI-R as a diagnostic tool in the differential diagnosis of children with infantile autism and children with a receptive language disorder.Children with infantile autism and children with a specific receptive language disorder often show similar behavioural problems, making the differentiation between these two diagnostic categories difficult. The purpose of this study is to evaluate the usefulness of parental information in the differential diagnosis of the two types of disorders mentioned above. Sixteen children with a receptive language disorder and 11 children with infantile autism participated in the study. All children had normal non-verbal IQs. The ADI-R (Autism Diagnostic interview-Revised) was performed with all children. The results showed that the ADI-R items reflecting behavioural features at pre-school age (age range 4-5 years) were better suited to differentiate the groups than the items reflecting behavioural features at the time of the investigation (mean age: 9 years). The items on the dimension "Reciprocal social interaction" and "communication and language" discriminated the groups better than the items of the dimension "Restricted interests". According to the ICD-10 algorithm of the ADI-R one child with autism and one child with a receptive language disorder were falsely classified. These false classifications were mainly due to a distorted parental perception of the child's behaviour. The ADI-R is a useful tool in the differential diagnosis of developmental disorders.- - - - - - - - - - ranking = 0.30769230769231keywords = behaviour (Clic here for more details about this article) |
4/9. Neuropsychiatric aspects of sotos syndrome. A review and two case illustrations.sotos syndrome, also known as cerebral gigantism, is a rare growth disorder first described by Sotos and colleagues in 1964. Since then, a majority of the literature pertaining to sotos syndrome has focussed on the medical aspects of the syndrome, while neuropsychiatric issues have been given little attention. The present article presents a review of the current knowledge concerning neuropsychiatric aspects of sotos syndrome. Information is provided relating to physical appearance, intellectual impairment, learning disabilities, language impairments, behavioural disorders and outcome. It is emphasised that careful delineation of neuropsychiatric aspects within a diagnostic syndrome may turn out to be the first step towards molecular characterisation of behaviour.- - - - - - - - - - ranking = 0.15384615384615keywords = behaviour (Clic here for more details about this article) |
5/9. goldenhar syndrome and autistic behaviour.Two girls with concomitant goldenhar syndrome (oculo-auriculovertebral spectrum disorder) and autistic disorder are described. One was diagnosed as having goldenhar syndrome in the first few weeks of life and as having autistic disorder in her fifth year; the other was diagnosed as having goldenhar syndrome when she was referred for evaluation of autistic symptoms at seven years of age. The type of physical abnormalities encountered in goldenhar syndrome suggests damage to neural structures in the second or late stages of the first trimester. The two cases described in this report suggest that autistic disorder sometimes can result from neural damage during the second trimester.- - - - - - - - - - ranking = 0.30769230769231keywords = behaviour (Clic here for more details about this article) |
6/9. Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.Balanced complex chromosome rearrangements (CCR) are extremely rare in humans. They are usually ascertained either by abnormal phenotype or reproductive failure in carriers. These abnormalities are attributed to disruption of genes at the breakpoints, position effect or cryptic imbalances in the genome. However, little is known about possible imbalances at the junction points. We report here a patient with a CCR involving three chromosomes (2;10;11) and eight breakpoints. The patient presented with behavioural problems as the sole phenotypic abnormality. The rearrangement, which is apparently balanced in G-banding and multicolour FISH, was shown by genomic array analysis to include a deletion of 0.15-1.5 Mb associated with one of the breakpoints. To explain the formation of this rearrangement through the smallest possible number of breakage-and-reunion events, one has to assume that the breaks have not occurred simultaneously, but in a temporal order within the span of a single cell division. We demonstrate that array comparative genomic hybridisation (CGH) is a useful complementary tool to cytogenetic analysis for detecting and mapping cryptic imbalances associated with chromosome rearrangement.- - - - - - - - - - ranking = 0.076923076923077keywords = behaviour (Clic here for more details about this article) |
7/9. A language programme to increase the verbal production of a child dually diagnosed with down syndrome and autism.BACKGROUND: The incidence of children dually diagnosed with down syndrome and autism is estimated to be as high as 11%. There is a paucity of research investigating linguistic treatment interventions for such children. This single-subject experiment examined a programme designed to increase the language production and verbal behaviour of a 9-year-old dually diagnosed boy who had been receiving a 15-h/week home-based applied behaviour analysis (ABA) programme. methods: Training principles were derived from previously empirically validated research in discrete trail learning and natural environment teaching, as well as modified incidental teaching procedures. The crux of the language programme involved withholding reinforcement until a spoken request was made. RESULTS: language production noticeably increased for each target area after the introduction of the language programme and was maintained at a 9-month follow-up session. CONCLUSIONS: A combined treatment approach incorporating direct instruction, natural environment teaching and incidental teaching can be effective in increasing and maintaining responsive and spontaneous speech in a child with down syndrome diagnosed with autism. Replication studies are needed with such multiple dually diagnosed children to further evaluate the effectiveness and generalizability of this combined language programme.- - - - - - - - - - ranking = 0.15384615384615keywords = behaviour (Clic here for more details about this article) |
8/9. Chromosome studies of children with specific speech and language delay.Among 88 children with speech and language problems from whom chromosome results were obtained, four were identified with a chromosome anomaly. Three had sex chromosome aneuploidy and had developmental problems, particularly with articulation. The fourth child had low-grade trisomy 21 in blood, with minimal signs of Down's syndrome but with bilateral conductive hearing loss. It is suggested that delay in speech development is one facet of the developmental problems that may be significant in later behavioural problems in adolescent and adult males with X and Y aneuploidy.- - - - - - - - - - ranking = 0.076923076923077keywords = behaviour (Clic here for more details about this article) |
9/9. Hyperlexic children reading.Eight hyperlexic children participated in the study. All had language delays, displayed difficulties in integrated behaviour and interpersonal relationships, and learned to read with little or no formal instruction (usually before the age of 5 years). Tests assessing cognitive and academic functioning were administered. In general, nonverbal skills were stronger than verbal skills. reading ability was in the grade 4 to grade 6 range as based upon Peabody Individual achievement Test (PIAT) reading Recognition scores. A wide variety of tests assessing phonological and lexical reading routes, as well as metalinguistic processing, were also administered. It appeared that the hyperlexic children were able to reach the lexicon via both the visualorthographic and phonological pathways. Error analysis indicated the former was preferred. Hyperlexic children had an organized, though limited, lexicon. Imagery had a significant effect on their reading. Further, they were able to comprehend single words and sentences, but not paragraphs. As only 3 of the 8 children seemed to have metalinguistic awareness, it becomes problematic whether the 'cognitive unconscious' is necessary for reading. Also, while the hyperlexic children might have acute visual registration mechanisms for written language, they have abstracted grapheme-phoneme transformation rules as indicated by their ability to read pseudowords.- - - - - - - - - - ranking = 0.076923076923077keywords = behaviour (Clic here for more details about this article) |