ABSTRACT
BACKGROUND: In Down syndrome (DS), adaptive behaviour often shows a "surplus effect" (i.e., higher adaptive abilities than expected from cognitive skills). As inclusive schooling has become mandatory in Italy, we studied the impact of school inclusion on the surplus effect of adaptive behaviour in adult DS, considering potential confounding factors such as parental education. METHODS: All consecutive DS individuals from three different sites were queried prospectively regarding type of schooling (inclusive and non-inclusive). Demographic data were documented; cognitive abilities and adaptive behaviour were assessed (Coloured Progressive Matrices and Vineland Adaptive Behaviour Scales). The aim was to establish the presence of a surplus effect in adaptive behaviour, primarily in the overall level and secondarily in the main domains and subdomains. A multivariable-adjusted logistic regression model was used for the association of schooling, and parental education. RESULTS: The majority (65%) showed a surplus effect in adaptive behaviour and had attended inclusive schools (85%). Higher adaptive skills as well as early and longer functional treatment programmes were more readily available for younger individuals. In the group of inclusive schooling, the surplus effect on overall adaptive behaviour was present in 70% as opposed to 38% in the group without inclusive schooling, significant when adjusted for gender and maternal education. This was also observed in socialisation, written, and community, and after adjustment in playing and leisure time. CONCLUSIONS: Adaptive behaviour showed a surplus effect in the majority of DS adults, even more so after inclusive schooling. Younger adults showed higher adaptive skills. Moreover, female gender and higher maternal educational level significantly enhanced this surplus effect.
ABSTRACT
BACKGROUND: Developmental Dyslexia is a disorder, highly frequent in the school population, for which the recommended rehabilitation procedures are not well defined. This study aimed to automatize reading decoding skills by using an innovative system for rehabilitation, based on a telerehabilitation method. It requires an intensive home-exercise with the supervision, by web, of the clinician. The study had three main aims: to diffuse knowledge on new methods for rehabilitation of reading difficulties; to verify whether an intensive and simplified exercise, targeted to the automation of reading, is suitable for different subgroups of dyslexic children; to define the treatment effects on basic cognitive functions underlying reading. METHODS: Twenty-five children, grouped according to the neuropsychological and anamnestic profiles, took part to the treatment by the software Reading Trainer®. RESULTS: Both speed and accuracy of reading decoding increased significantly after treatment, independently from the functional neuropsychological profile or the history of oral language delay. These changes were specific to decoding and not associated with improvements in reading comprehension or spelling skills. However, there was a "cascade effect" of the treatment efficacy on those basic cognitive functions considered precursors of the ability to read, with significant improvements in rapid lexical access, phonological processing and visual attention. CONCLUSIONS: This study provides information on the efficacy of new tools for telerehabilitation of specific reading disorders.
Subject(s)
Dyslexia/rehabilitation , Language Development Disorders/rehabilitation , Reading , Telerehabilitation/methods , Child , Female , Humans , Language Tests , Male , Treatment OutcomeABSTRACT
This study investigated the prevalence and type of gastrointestinal (GI) and food selectivity (FS) symptoms in 163 preschoolers with ASD, and their possible links with core ASD features and emotional/behavioural problems. 40.5% of children with ASD had at least one severe GI symptom or FS. Preschoolers with and without GI symptoms and with and without FS were significantly different on several emotional/behavioural problems and restrictive/repetitive behaviours, whereas they did not differ significantly on performance IQ and autistic severity. The GI plus FS group presented with Sleep Problems, Self-injurious Behaviors and Anxiety Problems. Results indicated the need for early identification of GI disturbances and FS in order to design tailored intervention for these symptoms frequently associated to challenging behaviours in ASD.
Subject(s)
Autistic Disorder/epidemiology , Child Behavior/psychology , Food Preferences , Gastrointestinal Diseases/epidemiology , Autistic Disorder/psychology , Child , Child, Preschool , Female , Humans , Infant , Male , PhenotypeABSTRACT
BACKGROUND: Down syndrome is the most commonly occurring chromosomal condition with a prevalence of 11.2-10000 life-births in Europe. The most important concern consists of various degrees of intellectual disability and sensory deficits. The overall prevalence of ophthalmologic abnormalities has been reported to be as high as 46-100%. Impairment of vision potentially hampers the capacity of learning and communication and thus of social integration. The aim of our study is to assess prospectively the occurrence of vision problems in patients with DS with special emphasis on adaptive behaviour and cognition. METHODS: Assessments included Hirschberg's corneal reflex method, eye alignment, cover test, Vineland Adaptive Behaviour Scales (VABS) for adaptive behaviour and Coloured Progressive Matrices (CPM) for cognitive abilities. RESULTS: We included prospectively 49 individuals from 19-52 years. Ophthalmologic problems were observed in 81.6% of our DS patients. The total number of visual disorders and symptoms was equally distributed with respect to ID-group and to levels of adaptive behaviour (p > 0.050). When comparing individuals matched for age, gender, cognitive skills and sociocultural background in a subset of individuals, vision problems did not decrease adaptive behaviour skills of our patients with visual disorders and daily living skills even fared better (p = 0.046). CONCLUSIONS: Effective early correction and intervention on visual-motor deficits seem to be important, but nevertheless personal autonomy is not seriously detained.
Subject(s)
Activities of Daily Living/psychology , Communication Disorders/psychology , Down Syndrome/psychology , Social Behavior Disorders/psychology , Socialization , Vision Disorders/psychology , Adult , Causality , Communication Disorders/diagnosis , Communication Disorders/epidemiology , Comorbidity , Down Syndrome/diagnosis , Down Syndrome/epidemiology , Female , Humans , Incidence , Italy/epidemiology , Male , Middle Aged , Social Behavior Disorders/diagnosis , Social Behavior Disorders/epidemiology , Social Skills , Vision Disorders/diagnosis , Vision Disorders/epidemiology , Young AdultABSTRACT
BACKGROUND: Down syndrome is a frequent cause of intellectual disability, with severe impact on the quality of life of affected individuals and their families, and high social costs. Intervention programs should start soon after birth but no consensus exists on specific types and timing of early interventions in this population. AIM: This pilot study explores the effects of an early multi-sensory intervention, based on body massage, on the development of visual function in infants with Down syndrome. METHOD: Infants were randomly allocated to either a massage or a control group. Intervention consisted of only standard care (Control Group) or standard care plus infant massage (Massaged Group). Visual acuity was assessed by Teller Acuity Cards and stereopsis by the Frisby Stereopsis Screening Test at 5, 6, 9 and 12 months. RESULTS: Massaged Group Infants showed a significantly higher visual acuity at 6 months of age and an accelerated development up to at least 12 months; compared to Controls, stereopsis had an earlier onset in the Massaged Group followed by a faster maturation. CONCLUSION: Environmental enrichment, in the tested form of infant massage, seems to affect maturation of visual functions in human infants, also in the presence of a genetic disability, when applied during a period of high brain plasticity.
Subject(s)
Down Syndrome/therapy , Massage , Visual Acuity , Depth Perception , Down Syndrome/physiopathology , Early Medical Intervention , Female , Humans , Infant , Male , Pilot Projects , Treatment OutcomeABSTRACT
Children with Down syndrome show hypotonia and ligamentous laxity that are associated with motor development delay. Neurologic disorders are common in children with Down syndrome; however, in literature the presence of periodic movement disorders has not yet been described. We report 2 different types of periodic movement disorders in 2 infants with Down syndrome. In the first case, we described an 8-month-old girl with involuntary head nodding and absence of any other neurologic or ophthalmologic abnormalities. In the second case, we described a 6-month-old boy with abnormal but painless head rotation and inclination, alternating from side to side. Episodes of head tilting were often associated with a state of general uneasiness. Neurologic examination between attacks was normal. The aim of this paper is to provide practical information on recognition and management of movement disorders in Down syndrome.
Subject(s)
Down Syndrome/complications , Movement Disorders/complications , Down Syndrome/physiopathology , Female , Humans , Infant , Male , Movement Disorders/physiopathologyABSTRACT
Submicroscopic 6p25 deletion is now recognized as a clinically identifiable syndrome, characterized by intellectual disability, language impairment, hearing deficit, craniofacial, ophthalmologic, cardiac, and varying central nervous system anomalies. We report on two dyzogotic twins with a maternal segregating hemizygous interstitial deletion on chromosome 6p25.1, spanning 0.9 kb; the smallest ever reported. Both had dysmorphic features (prominence of the metopic suture, synophrys, hypertelorism, down-slanting palpebral fissures, tented mouth), and a distinct brain MRI, showing a focal significant increase of the right peri-frontal subarachnoid space, with shallow sulci and a mild anomaly of the gyral pattern. Such brain anomaly has never been reported in association with del 6p25. Both propositi had a borderline-mild intellectual disability, speech and language difficulties, and behavior abnormalities. Their mother, formally tested, had a borderline cognitive impairment. Although none of the genes mapping to the deleted region are apparently related to the phenotype, LYRM4 resulted down-regulated in the cerebellar cortex of schizophrenia patients compared with controls, and Lyrm4 was down-regulated in the prefrontal cortex of mice with microdeletions in the locus syntenic to human 22q11.2 patients affected by schizophrenia. These data are in agreement with the emerging concept that similar CNVs are pathogenic in patients affected by distinct neurological diseases, and that these loci are more general risk factors for different disorders. The resemblance of our patients to those with the more extensive 6p25.1p25.3 terminal deletion suggests that the gene/s responsible for the physical phenotype should reside in the 6p25.1 genomic region.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 6/genetics , Diseases in Twins/genetics , Intellectual Disability/genetics , Language Disorders/genetics , Speech Perception/genetics , Twins, Dizygotic/genetics , Adult , Child , Female , Humans , Male , Pedigree , SyndromeABSTRACT
The autistic phenotype in Down syndrome (DS) is marked by a characteristic pattern of stereotypies, anxiety and social withdrawal. Our aim was to study adaptive behaviour in DS with and without autistic comorbidity using the Vineland Adaptive Behaviour Scales (VABS), the Childhood Autism Rating Scales (CARS) and the DSM IV-TR criteria. We assessed 24 individuals and established three groups: Down syndrome (DS), DS and autistic disorder (DS-AD), and autistic disorder (AD). The DS and DS-AD groups showed statistically significantly similar strengths on the VABS (in receptive and domestic skills). The DS and DS-AD subjects also showed similar strengths on the CARS (in imitation and relating), differing significantly from the AD group. The profile of adaptive functioning and symptoms in DS-AD seemed to be more similar to that found in DS than to the profile emerging in AD. We suggest that the comorbidity of austistic symptoms in DS hampered the acquisition of adaptive skills more than did the presence of DS alone.