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.

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.

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.

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.

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.

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.

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.

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.

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.

Mental Disorders in Deaf and Hard of Hearing Adult Outpatients: A Comparison of Linguistic Subgroups.

Deaf and hard of hearing (DHH) individuals who use signed language and those who use spoken language face different challenges and stressors. Accordingly, the profile of their mental problems may also differ. However, studies of mental disorders in this population have seldom differentiated between linguistic groups. Our study compares demographics, mental disorders, and levels of distress and functioning in 40 patients using Norwegian Sign Language (NSL) and 36 patients using spoken language. Assessment instruments were translated into NSL. More signers were deaf than hard of hearing, did not share a common language with their childhood caregivers, and had attended schools for DHH children. More Norwegian-speaking than signing patients reported medical comorbidity, whereas the distribution of mental disorders, symptoms of anxiety and depression, and daily functioning did not differ significantly. Somatic complaints and greater perceived social isolation indicate higher stress levels in DHH patients using spoken language than in those using sign language. Therefore, preventive interventions are necessary, as well as larger epidemiological and clinical studies concerning the mental health of all language groups within the DHH population.

Children Who Use Communication Aids Instructing Peer and Adult Partners During Play-Based Activity.

Little is known about how children with severe motor impairments who use communication aids provide instructions when given control over interaction. In this study, 35 children - 18 who used communication aids and 17 who used natural speech - were videotaped in play-based activities. Both groups successfully instructed partners to build replications of models the partners could not see. The results demonstrate that children using communication aids can also have an active role in play-based activities using language, but that their experience with activities may be limited and their instructions may take longer to give. The children who used natural speech provided more detailed instructions and were more successful in guiding their partners. Creating opportunities for active participation in play may be important for the development of communicative autonomy.

Traumatization in Deaf and Hard-of-Hearing Adult Psychiatric Outpatients.

Deaf and hard-of-hearing persons are at risk for experiencing traumatic events and such experiences are associated with symptoms of mental disorder. We investigated the prevalence of traumatic events and subsequent traumatization in adults referred to specialized psychiatric outpatient units for deaf and hard-of-hearing patients. Sixty-two patients were diagnosed with mental disorders and assessed for potential traumatic experiences in their preferred language and mode of communication using instruments translated into Norwegian Sign Language. All patients reported traumatic events, with a mean of 6.2 different types; 85% reported subsequent traumatization not significantly associated with either residential school setting or communicative competence of childhood caregivers. Traumatization patterns in both sexes were similar to those in hearing clinical samples. Findings indicate that psychiatric intake interviews should routinely assess potentially traumatic events and their impacts, and that mental health professionals working with deaf and hard-of-hearing patients should be able to treat trauma-related disorders.

Juvenile neuronal ceroid lipofuscinosis and education.

Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emotional reactions. There is presently no cure and the disease leads to premature death. There have been few studies of non-medical intervention for individuals with JNCL, probably because of the negative prognosis. The present chapter discusses the education of children and adolescents with JNCL on the basis of current knowledge about the variation in perceptual, cognitive and language abilities through the course of the disease, and the possibilities that exist for supporting coping and learning within and outside the classroom. Adapted and special needs education may contribute significantly to improved learning conditions, better maintenance of skills and less frustration for individuals with JNCL. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.

Identifying children with autism spectrum disorder at 18 months in a general population sample.

BACKGROUND: Previous research on clinical and high-risk samples suggests that signs of autism spectrum disorder (ASD) can be detected between 1 and 2 years of age. We investigated signs of ASD at 18 months in a population-based sample and the association with later ASD diagnosis. METHODS: The study sample includes 52,026 children born 2003 through 2008 and is a subset of children that participated in the Norwegian Mother and Child Cohort (MoBa), a population-based longitudinal study, and the Autism Birth Cohort (ABC), a sub-study on ASD. Parents completed all 23 items from the Modified Checklist for Autism in Toddlers (M-CHAT) at 18 months. RESULTS: The M-CHAT 6-critical-item criterion and the 23-item criterion had a specificity of 97.9% and 92.7% and a sensitivity of 20.8% and 34.1%, respectively. In the 173 children diagnosed with ASD to date, 60 children (34.7%) scored above the cut-off on either of the screening criteria. The items with the highest likelihood ratios were 'interest in other children', 'show objects to others' and 'response to name'. CONCLUSION: Even though one-third of the children who later received an ASD diagnosis were identified through M-CHAT items, the majority scored below cut-off on the screening criteria at 18 months. The results imply that it might not be possible to detect all children with ASD at this age.

Psychometric properties of a sign language version of the Mini International Neuropsychiatric Interview (MINI).

BACKGROUND: There is a need for psychiatric assessment instruments that enable reliable diagnoses in persons with hearing loss who have sign language as their primary language. The objective of this study was to assess the validity of the Norwegian Sign Language (NSL) version of the Mini International Neuropsychiatric Interview (MINI). METHODS: The MINI was translated into NSL. Forty-one signing patients consecutively referred to two specialised psychiatric units were assessed with a diagnostic interview by clinical experts and with the MINI. Inter-rater reliability was assessed with Cohen's kappa and "observed agreement". RESULTS: There was 65% agreement between MINI diagnoses and clinical expert diagnoses. Kappa values indicated fair to moderate agreement, and observed agreement was above 76% for all diagnoses. The MINI diagnosed more co-morbid conditions than did the clinical expert interview (mean diagnoses: 1.9 versus 1.2). Kappa values indicated moderate to substantial agreement, and "observed agreement" was above 88%. CONCLUSION: The NSL version performs similarly to other MINI versions and demonstrates adequate reliability and validity as a diagnostic instrument for assessing mental disorders in persons who have sign language as their primary and preferred language.

Social participation of school-aged children who use communication aids: the views of children and parents.

Social participation is crucial for children's development and well-being; however, little is known about the social participation of children who use communication aids. This article presents findings from interviews with eight 5- to 14-year-old children who used communication aids and their parents about social participation, communicative interactions, and peer relationships. Video- and audio-recordings were transcribed and analyzed using thematic content analysis, and five themes were identified. Two themes reflect parents' views: Communication partners and strategies and Access to aided communication. Three themes reflect perceptions expressed both by children and parents: Participation in society, Interaction opportunities, and Social relationships. The findings provide insights into both the achievements and the challenges experienced by young people who use aided communication.

Facilitated communication and authorship: a systematic review.

Facilitated Communication (FC) is a technique whereby individuals with disabilities and communication impairments allegedly select letters by typing on a keyboard while receiving physical support, emotional encouragement, and other communication supports from facilitators. The validity of FC stands or falls on the question of who is authoring the typed messages--the individual with a disability or the facilitator. The International Society for Augmentative and Alternative Communication (ISAAC) formed an Ad Hoc Committee on FC and charged this committee to synthesize the evidence base related to this question in order to develop a position statement. The purpose of this paper is to report this synthesis of the extant peer-reviewed literature on the question of authorship in FC. A multi-faceted search was conducted including electronic database searches, ancestry searches, and contacting selected authors. The authors considered synopses of systematic reviews, and systematic reviews, which were supplemented with individual studies not included in any prior reviews. Additionally, documents submitted by the membership were screened for inclusion. The evidence was classified into articles that provided (a) quantitative experimental data related to the authorship of messages, (b) quantitative descriptive data on the output generated through FC without testing of authorship, (c) qualitative descriptive data on the output generated via FC without testing of authorship, and (d) anecdotal reports in which writers shared their perspectives on FC. Only documents with quantitative experimental data were analyzed for authorship. Results indicated unequivocal evidence for facilitator control: messages generated through FC are authored by the facilitators rather than the individuals with disabilities. Hence, FC is a technique that has no validity.