Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes.

Linkage and cytogenetics studies have found the Angelman syndrome (AS) chromosomal region to be of relevance to autism disorder (AD) or autism spectrum disorder (ASD). Autism is considered part of the behavioural phenotype in AS based on formal autism assessments (autism diagnostic interview-revised [ADI-R] and autism diagnostic observation schedule [ADOS]), which have mainly addressed the deleted AS group. We explored 23 AS patients including all genetic subtypes and made a co-morbid diagnosis of AD/ASD in 14/23 (61%), which does not include 4 cases classified within the broader autism spectrum disorder (bASD). Deletions accounted for the main fraction (35%), ubiquitin-protein ligase E3A (UBE3A) mutation represented 13%, imprinting defects and uniparental disomy 9 and 4%, respectively. UBE3A mutations due to lack of the homologous to the E6-associated protein carboxyl terminus domain (n = 3) were associated with the ASD, while more distal mutations (n = 3) seem to escape from a co-morbid diagnosis of autism/autism spectrum. Differences in severity of autistic features were seen across subtypes of AS, with some behavioural features being unique to AS and some representing all forms of developmental disability. Autism signs (poor/lack of eye contact, showing, spontaneous initiation of joint attention, social quality of overtures [ADOS algorithm items for Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV)/International Statistical Classification of Diseases and Related Health Problems-10 (ICD-10) autism diagnosis belonging to the reciprocal social interaction domain]) discriminating all the co-morbid AS categories from non-autistic AS belonged to the social interaction domain. Impairments in the communication domain (gestures, pointing, use of another's body, frequency of vocalisation towards others [ADOS algorithm items for DSM-IV/ICD-10 autism diagnosis belonging to the communication domain]) justified classification of co-morbid AD/ASD vs the classification of less affected bASD. Evaluation of the behaviour domain suggested that repetitive sensory and motor behaviours correlate with a low developmental profile rather than being specific to autism.

Training on the International Classification of Functioning, Disability and Health (ICF): the ICF-DIN Basic and the ICF-DIN Advanced Course developed by the Disability Italian Network.

The objective is to present training on the International Classification of Functioning, Disability and Health (ICF) prepared by the Disability Italian Network (DIN) and to present strategies of ICF dissemination in Italy. A description of DIN's training methodology, prepared in collaboration with World Health Organization (WHO) experts, is provided within its practical applications in health, labour, rehabilitation and statistical sectors. The ICF-DIN Basic Course is eight hours long and focuses on ICF basic principles, structure and application in different settings. The ICF-DIN Advanced Course, three days long followed by three months of distance learning, assumes Basic Course completion, and focuses also on ICF-checklist's coding and WHO-DAS II administration. The first training courses' outcomes, held in Italy and addressed to health, social and labour professionals, are provided. The feedback received by participants at the end of the courses showed that the main mistake they made was to consider ICF as an assessment instrument. The ICF-DIN training course was crucial in explaining the correct use of the ICF as a classification and to show its impact and usefulness on daily practice, particularly in multidisciplinary teams. The ICF-DIN courses already carried out in Italy show that this teaching methodology teaches how to avoid incomplete applications, simplification and misunderstanding of ICF's complexity.

Level of Activity in Profound/Severe Mental Retardation (LAPMER): a Rasch-derived scale of disability.

Classification of Mental Retardation (MR) into severe and profound is based on IQ threshold (<35 and 20% respectively) and on quite generic descriptions of deficits in adaptive behavior. The LAPMER scale (after Level of Activity in Profound/severe Mental Retardation) was developed as a measure of severity through observed behavior in adult patients. The Rasch analysis (RA, in its rating scale model) was adopted as a guide for selection of items, conceptualization of item levels, and validation of the overall instrument. The RA provides estimates on a continuum measure corresponding to the discrete cumulative score. A model prescribes the expected scores on each subject-item interaction. Discrepancies between observed and expected scores allow diagnostic procedures on coherence (fit) of both subjects and items. The final version included 8 items: Feeding, Sphincters, Communication, Manipulation, Dressing, Locomotion, Spatial Orientation and Praxiae, scored 0/1 or 0/1/2 (cumulative range for the total set of items was 0-13) the higher the score, the better the performance. The test can be administered in 15 minutes through observation or inquiry from proxies and personnel. A psychologist rated 146 permanent hosts of a large Institute for mentally retarded adults (51 profound and 95 severe, 91 male, age 18-63, median 36). Median score was 6/13, IQR 1-9, range 0-12, 19% of cases scored 0. Cronbach a for internal consistency was 0.90. Fifty-seven patients were also independently scored by another psychologist. Between-rater Cohen's k reliability index ranged from 0.77-0.96 across items. Median raw scores were 1 and 8 in profound and severe cases, respectively (p<0.001). Rasch person reliability coefficient, a 0 to 1 index of internal consistency analogous to Crohnbach a, was 0.92. For each item the standardized differences between observed and model-expected scores (residuals) were c2 tested (a level 0.05) across sub-groups of patients. These were: profound vs. severe cases, and classes of motor impairment (tetra-,hemi-,para-plegic and unimpaired), matched for overall ability measure. For 6 items some residuals were found to be statistically significant. Absolute differences ranged from 0 to 0.7 raw score points, with no systematic patterns. Gender, age group and rater did not bias the measure. Residuals did not correlate meaningfully across pairs of items (r<(0.5)), further supporting the unidimensionality of the measure. The scale seems a valid tool for classification of adult severe and profound MR cases.