The assessment and diagnosis of intellectual disability when development is atypical. A Norwegian population study of individuals with CHARGE syndrome.

AIM: This paper aimed to answer how psychometric methods based on neurotypical populations can serve as valid instruments in the assessment and diagnosis of intellectual disability in individuals with atypical development. The genetic, structural, and functional features of CHARGE make it uniquely suited to address this question. METHOD: A Norwegian population of individuals with CHARGE (N = 35) underwent assessment procedures according to DSM-5 guidelines for the evaluation of an intellectual disability diagnosis. Results from cognitive testing (Wechsler Intelligence Scales) and parental evaluation of adaptive skills (Vineland Adaptive Behavioral Scale) were obtained and compared to their respective norm samples to explore any methodological inconsistencies. RESULT: Significant differences emerged between the participants and the norm samples. Global cognition obtained from Wechsler revealed a bimodal distribution, suggesting a two-group sample, with the youngest children forming their own subgroup. Comparisons of the different age-groups' performances demonstrated the lowest results among the preschoolers while the adults scored the highest. The global adaptive behavior score turned out significantly lower than the performance-based scores, thereby deflating the overall estimate of global intellectual abilities. CONCLUSION: For individuals with CHARGE, the effect of the atypicality seemed most apparent during early childhood, stabilizing and subsiding towards adulthood. The test results' interpretability was weakest for the preschoolers progressively increasing until peaking in adulthood, emphasizing the importance of delaying the assessment and diagnosis of intellectual disability. Because of several validity issues connected to the observation-based measure, complementary testing should precede clinical evaluations when possible in the diagnostics of individuals with CHARGE.

Executive Functions in a Population of Individuals with CHARGE Syndrome: Findings from Performance-Based and Rating Scale Measures According to a 3-Factor Model.

PURPOSE: To identify possible predictors of executive functions of individuals with CHARGE syndrome, as these will be important targets for interventions. METHODS: A population-based cross-sectional study investigating the executive functions of a representative sample of 35 Norwegians with CHARGE syndrome divided into two subgroups to handle their inherent heterogeneity. Both performance-based measures and rating scale findings were included and organized according to the 3-factor model of Miyake and colleagues. RESULTS: Both measures showed comprehensive executive dysfunctions within the population, which were largely unrelated to deafblindness. Working memory stood out as a strength within the executive domain and the only factor presenting results within the normal range. Verbal working memory was a particular cognitive resource for participants with deafblindness, and, unlike those without deafblindness, unrelated to sensorimotor functions. CONCLUSIONS: Individuals with CHARGE syndrome appear to be at risk for underdeveloped executive functions due to neurogenetic and environmental factors. Performance-based measures and ratings from caregivers gave unique and complementary knowledge and implied the need of both when investigating executive functioning in CHARGE syndrome. Participants with deafblindness presented strong verbal working memory despite their auditory impairments, indicating effective compensatory mechanisms The results also indicated an untapped cognitive potential in both subgroups. Because of their relatively advanced working memory significantly correlating with global cognition, the environment should assume equal learning potential of individuals with CHARGE syndrome regardless of their degree of sensory impairments.

Measuring impact of augmentative and alternative communication interventions: adapting the family impact of assistive technology scale for augmentative and alternative communication (FIATS-AAC-No) for use in Norway.

Individuals who require augmentative and alternative communication (AAC) comprise a heterogeneous group, but all need follow-up to assure the appropriateness of implemented interventions. To enable this, outcome measures such as the Family Impact of Assistive Technology Scale for Augmentative and Alternative Communication (FIATS-AAC) may be used. However, instrument must be adapted to the language and culture in which they are to be used. The aim of the study was to therefore to explore the suitability of the Norwegian short-form version (FIATS-AAC-No) by investigating the reliability, validity, and perceived clinical usefulness. The study utilized a mixed-method design, including an online survey and two small group interviews. In total, 47 parents responded to the online survey. The online survey was comprised of three questionnaires, where FIATS-AAC-No was one of the questionnaires. Two group interviews, with two parents and two clinicians, were conducted. Findings show satisfactorily reliability, construct validity and content validity. The interviews revealed a need for specification of key concepts, that there are challenges involved in being parents of a child needing AAC, and that completing questionnaires was perceived as stressful by many parents. The clinicians viewed the FIATS-AAC-No as a potentially useful clinical tool and expressed that it brought to attention the need for follow-up parents have.

Communication partner strategies in negotiation for meaning in interactions involving aided communication.

Co-constructing meaning is a common feature of all conversations but may have a more specific role in interactions where one of the participants uses aided communication. The present study applies qualitative descriptive analysis supported by quantitative measures in exploring meaning-negotiation strategies of speaking communication partners in task-related aided conversations. The study focuses on identifying and exploring strategies that the communication partners utilise when attempting to interpret the meaning and resolve potential ambiguities of aided utterances in the context of event descriptions. The participants of the study were three aided communicators (age 8 to 11 years), who used graphic communication systems as their main means of communication, and familiar adult communication partners. The results demonstrate that the communication partners employed several strategies in attempting to comprehend, interpret and co-construct the meaning of aided utterances at various phases of interaction. The primary strategy involved clarifying the lexical properties of the aided constructions, reflecting the multidimensional and polysemous nature of graphic communication systems. Structural and referential complexities affected how the elements produced were understood as part of the ongoing context. The study highlights the participants´ shared responsibility in developing and utilising effective meaning-negotiation and repair strategies to support successful communication.

Aided communication, mind understanding and co-construction of meaning.

Mind understanding allows for the adaptation of expressive language to a listener and is a core element when communicating new information to a communication partner. There is limited knowledge about the relationship between aided language and mind understanding. This study investigates this relationship using a communication task. The participants were 71 aided communicators using graphic symbols or spelling for expression (38/33 girls/boys) and a reference group of 40 speaking children (21/19 girls/boys), aged 5;0-15;11 years. The task was to describe, but not name, drawings to a communication partner. The partner could not see the drawing and had to infer what was depicted from the child's explanation. Dyads with aided communicators solved fewer items than reference dyads (64% vs 93%). The aided spellers presented more precise details than the symbol users (46% vs 38%). In the aided group, number of correct items correlated with verbal comprehension and age.

Functional Outcomes of Children Identified Early in the Developmental Period as at Risk for ASD Utilizing the The Norwegian Mother, Father and Child Cohort Study (MoBa).

Early identification of autism spectrum disorder (ASD) is regarded as crucial for swift access to early intervention and, subsequently, better outcomes later in life. However, current instruments miss large proportions of children who later go on to be diagnosed with ASD, raising a question of what these instruments measure. The present study utilized data from the Norwegian Mother, Father, and Child Cohort Study and the Autism Birth Cohort study to explore the subsequent developmental and diagnostic characteristics of children raising developmental concern on the six-critical discriminative item criterion of the M-CHAT (DFA6) at 18 months of age (N = 834). The DFA6 identified 28.8% of children diagnosed with ASD (N = 163), but 4.4% with language disorder (N = 188) and 81.3% with intellectual disability (N = 32) without ASD. Scoring in the «at-risk¼ range was associated with lower IQ, impaired functional language, and greater severity of autism symptoms whether children had ASD or not.

Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome.

BACKGROUND AND PURPOSE: Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a mutation in another gene does not exclude RTT. We attempted to correlate genotype and phenotype to see if there are significant clinical associations. METHODS: All available females diagnosed with RTT in Norway were invited to the study. Parents were interviewed, the girl or woman with RTT examined and medical records reviewed. All diagnoses were revisited according to the current diagnostic criteria and exome-based sequencing analyses were performed in individuals without an identified causative mutation. Participants were categorized according to genotypes and RTT diagnosis. Individuals with RTT with and without mutations in MECP2 were compared. RESULTS: Ninety-one individuals were included. A presumed causative mutation was identified in 86 individuals, of these, mutations in MECP2 in 77 individuals and mutations in SMC1A, SYNGAP1, SCN1A, CDKL5, FOXG1 or chromosome 13q in nine. Seventy-two individuals fulfilled the diagnostic criteria for classic and 12 for atypical RTT. Significant differences in early development, loss of hand use and language, intense eye gaze and the presence of early onset epilepsy were revealed in individuals with RTT according to their MECP2 genotypic status. CONCLUSION: Using the current diagnostic criteria, genetic and clinical variation in RTT is considerable. Significant differences between individuals with RTT with and without MECP2 mutations indicate that MECP2 is a major determinant for the clinical phenotype in individuals with RTT.

Medical Issues in Adults with Rett Syndrome - A National Survey.

Objectives: To examine main health issues in a population of females with Rett syndrome, with a focus on individuals aged 36 or older. Methods: A national survey including 85 females, divided into a younger (1-20 years), a middle (21-35 years) and an older group (36-66 years). Data include clinical examination, medical records and parental interviews. Prevalences of six main medical issues (scoliosis, ambulation, growth, respiration, gastrointestinal dysmobility and epilepsy) and severity scores in the three groups were compared. Results: Mean severity scores were 11.8, 15.1 and 13.7 (from younger to older), and the difference between the younger and the middle group was significant. No other major significant prevalence differences were observed. Conclusions: Most main medical issues in Rett syndrome continued to be a major concern in adulthood, but health did not seem to decline with increasing age. The results emphasize the need for clinical follow-up throughout adulthood.

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report.

BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other genetic causes. So far, there has not been reported any other gene that may account for the majority of these cases. CASE PRESENTATION: We describe two females who fulfill the diagnostic criteria for classic RTT, with pathogenic de novo mutations in SCN1A, which usually leads to Dravet syndrome. The developmental history and clinical features of these two females fits well with RTT, but they do have an unusual epileptic profile with early onset of seizures. Investigation of mRNA from one of the females showed a significantly reduced level of MECP2 mRNA. CONCLUSIONS: To our knowledge, this is the first report suggesting that SCN1A mutations could account for a proportion of the females with classic RTT without MECP2 mutations. As a consequence of these findings SCN1A should be considered in the molecular routine screening in MECP2-negative individuals with RTT and early onset epilepsy.

Epilepsy in classic Rett syndrome: Course and characteristics in adult age.

PURPOSE: Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females. Epilepsy is a major clinical feature, but its long-term course in RTT has not been sufficiently explored. This study addresses the development of the epilepsy in adults with RTT. METHODS: Available females diagnosed with RTT in Norway were asked to participate. Parents/caregivers were interviewed, the girls/women were examined and their medical records reviewed. Participants were categorized according to age, epilepsy, seizure patterns and mutation severity groups. RTT severity was assessed (epilepsy score excluded). RESULTS: 70 females with classic RTT were included. A presumed pathogenic mutation in MECP2 was found in 96%. The presence of active epilepsy (seizures last five years) was similar in all age groups above the age of ten: 11 (65%) in adolescents (11-20 years), 9 (60%) in young adults (21-30 years) and 14 (67%) in participants above 30 years of age. Tonic-clonic seizures within the last year were present in 55, 67 and 64%, and ≥ weekly seizures occurred in 27, 45 and 50% in the respective age groups. Among participants with active epilepsy, 69% had unremitting seizures, whereas 31% had experienced remissions for more than six months during the last five years. In the oldest group (>30 years), only 19% had obtained seizure control for >5 years, and 14% had never experienced seizures. Seizure activity correlated with RTT severity score, whereas the relationship to mutation type remained ambiguous. CONCLUSION: Epilepsy continues to be a major concern in adults with RTT. Two thirds of women above 30 years of age remained with active epilepsy and 50% of them had seizures at least weekly.

Pupillary Responses to Illusions of Brightness in Autism Spectrum Disorder.

Previous studies indicate that individuals with autism spectrum disorder (ASD) do not experience optical illusions in the same manner as individuals with typical development. This study uses pupillary responses as an objective measure of perception of visual illusions, with the hypothesis that adults with ASD will show weaker pupillary constrictions to the illusions than adults without ASD. An eye-tracker was used to investigate the spontaneous pupillary changes to brightness illusions in adults diagnosed with ASD (N = 11) and in a control group (N = 24). Contrary to the hypothesis, the ASD group showed similar pupillary constrictions to the illusory bright stimuli as the control group. Therefore, this study does not support the idea that individuals with ASD have a veridical perception of these types of illusions and instead suggest that atypical perception of illusions does not constitute a universal characteristic of aspect of high-functioning individuals with ASD.

Assessment of aided language comprehension and use in children and adolescents with severe speech and motor impairments.

There is limited knowledge about aided language comprehension and use in children who use aided communication and who are considered to have a relatively good comprehension of spoken language. This study's purpose was to assess their aided language skills. The participants were 96 children and adolescents who used communication aids (aided group) and 73 children and adolescents with natural speech (reference group), aged 5 to 15 years. All of the participants who used aided communication were regarded by their teachers or professionals as having age-appropriate language comprehension. All of the participants completed (a) standardized tests of visual perception, non-verbal reasoning, and comprehension of spoken language, and (b) tasks designed for this study that measured comprehension and production of graphic utterances through communicative problem solving. Using their own communication systems, the participants achieved an average of 72% correct on the graphic symbol comprehension task items, and 63% on the expressive tasks. The participants with natural speech achieved an average of 88% correct on comprehension items, and 93-96% accuracy on production items. The differences between groups were significant on all the tasks and standardized tests. There was considerable variation within the group of participants who used aided communication, and the results reveal a need to develop instruments with norms for aided language competence that can inform the implementation of interventions to support aided language development.

Communicating the unknown: descriptions of pictured scenes and events presented on video by children and adolescents using aided communication and their peers using natural speech.

The facility to describe scenes and events is important in everyday communication, but little is known about the description skills and strategies of young people using aided communication. This article explores how 81 children and adolescents using aided communication and 56 peers using natural speech, aged 5-15 years, described pictured scenes and events presented on video to a partner who had no prior knowledge of the content. The group who used aided communication took longer and included fewer elements in their descriptions than the reference group; however, the groups did not differ in their use of irrelevant or incorrect elements, suggesting that both groups stayed on topic. Measures related to aided message efficiency correlated significantly with measures of spoken language comprehension. There were no significant differences between groups for their descriptions of pictured scenes and video events. Analyses showed both unpredicted group similarities and predictable differences, suggesting key components for future research consideration.

Vocabulary comprehension and strategies in name construction among children using aided communication.

Vocabulary learning reflects the language experiences of the child, both in typical and atypical development, although the vocabulary development of children who use aided communication may differ from children who use natural speech. This study compared the performance of children using aided communication with that of peers using natural speech on two measures of vocabulary knowledge: comprehension of graphic symbols and labeling of common objects. There were 92 participants not considered intellectually disabled in the aided group. The reference group consisted of 60 participants without known disorders. The comprehension task consisted of 63 items presented individually in each participant's graphic system, together with four colored line drawings. Participants were required to indicate which drawing corresponded to the symbol. In the expressive labelling task, 20 common objects presented in drawings had to be named. Both groups indicated the correct drawing for most of the items in the comprehension tasks, with a small advantage for the reference group. The reference group named most objects quickly and accurately, demonstrating that the objects were common and easily named. The aided language group named the majority correctly and in addition used a variety of naming strategies; they required more time than the reference group. The results give insights into lexical processing in aided communication and may have implications for aided language intervention.

Visual-spatial cognition in children using aided communication.

Children with severe motor impairments are restricted in their manipulation and exploration of objects, but little is known about how such limitations influence cognitive development. This study investigated visual-constructional abilities in 75 children and adolescents, aged 5;0-15;11 (years;months), with severe speech impairments and no intellectual disabilities (aided group) and in 56 children and adolescents with typical development (reference group). Verbal comprehension, non-verbal reasoning, and visual-spatial perception were assessed with standardized tests. The task of the participants was to verbally instruct communication partners to make physical constructions identical to models that the partner could not see. In the aided group, 55.7% of the constructions were identical to the models participants described, compared to 91.3% in the reference group. In the aided group, test results explained 51.4% of the variance in construction errors. The results indicate that the participants' language skills were decisive for construction success. Visual-perceptual challenges were common among the aided communicators, and their instructions included little information about size and spatial relations. This may reflect less experience with object manipulation and construction than children with typical development, and using aided communication to instruct others to make three-dimensional constructions. The results imply a need for interventions that compensate for the lack of relevant experience.

Constructing narratives to describe video events using aided communication.

Narratives are a pervasive form of discourse and a rich source for exploring a range of language and cognitive skills. The limited research base to date suggests that narratives generated using aided communication may be structurally simple, and that features of cohesion and reference may be lacking. This study reports on the analysis of narratives generated in interactions involving aided communication in response to short, silent, video vignettes depicting events with unintended or unexpected consequences. Two measures were applied to the data: the Narrative Scoring Scheme and the Narrative Analysis Profile. A total of 15 participants who used aided communication interacted with three different communication partners (peers, parents, professionals) relaying narratives about three video events. Their narratives were evaluated with reference to narratives of 15 peers with typical development in response to the same short videos and to the narratives that were interpreted by their communication partners. Overall, the narratives generated using aided communication were shorter and less complete than those of the speaking peers, but they incorporated many similar elements. Topic maintenance and inclusion of scene-setting elements were consistent strengths. Communication partners offered rich interpretations of aided narratives. Relative to the aided narratives, these interpreted narratives were typically structurally more complete and cohesive and many incorporated more elaborated semantic content. The data reinforce the robust value of narratives in interaction and their potential for showcasing language and communication achievements in aided communication.

Communication aid provision and use among children and adolescents developing aided communication: an international survey.

A fundamental requirement of a supportive language development for young children who need aided communication is that an aided communication system is made available and its use is supported. There is limited information about the age at which children are typically provided with a communication aid or about how aided communication is used in everyday situations. Using questionnaire-based interview data, this study investigated (a) the pattern of provision of communication aids to 84 children and adolescents, (b) parents' and professionals' evaluation of the quality of communication across contexts, and (c) availability and use of aided communication in these contexts. The age at which the participants received their first aided system varied considerably across the group; however, most were considerably older than the age at which children with typical development usually begin to speak. Parents and professionals rated most everyday situations as good communication situations but reported that the participants did not have their main form of expressive language available in many of these situations, or did not use it much. Parents rated their child's education in relation to aided language positively, but many professionals indicated that they had limited knowledge about the participant's use of aided communication outside of the school environment, or about the parents' attitudes. The study gives insights into the language learning situation of children and adolescents who develop aided communication.

Introduction to the special issue on aided language processes, development, and use: an international perspective.

This introduction to the Special Issue discusses current theoretical approaches to language development and their application to aided language development. It also discusses some conceptual issues and aspects of aided language development that are relevant for the articles, and gives a short overview of the articles.

Neuropsychological profiles of children with cerebral palsy.

PURPOSE: To explore factors contributing to variability in cognitive functioning in children with cerebral palsy (CP). METHOD: A geographical cohort of 70 children with CP was assessed with tests of language comprehension, visual-spatial reasoning, attention, working memory, memory, and executive functioning. Mean age was 9;9 years (range 5;1-17;7), 54.3% were girls, and 50.0% had hemiplegic, 25.7% diplegic, 12.9% quadriplegic, and 11.4% dyskinetic CP. For the participants with severe motor impairments, assessments were adapted for gaze pointing. A cognitive quotient (CQ) was computed. RESULTS: Mean CQ was 78.5 (range 19-123). Gross motor functioning, epilepsy, and type of brain injury explained 35.5% of the variance in CQ (F = 10.643, p = .000). CONCLUSION: Twenty-four percent had an intellectual disability, most of them were children with quadriplegic CP. Verbal comprehension and perceptual reasoning scores did only differ for the 21% with an uneven profile, of whom two-thirds had challenges with perceptual reasoning.