Norwegian paediatric habilitation centres judge their own competence on cerebral visual impairment as limited.

AIM: Cerebral visual impairment (CVI), a frequently occurring functional impairment in children with neurodevelopmental disorders, leads to communicative, social and academic challenges. In Norway, children with neurodevelopmental disorders are assessed at paediatric habilitation centres. Our aims were to explore how CVI is identified, how paediatric habilitation centres assess their CVI competence and the reported prevalence of CVI among children with cerebral palsy. METHODS: An electronic questionnaire was sent to all 19 Norwegian paediatric habilitation centre leaders in January 2022. The results were analysed quantitatively and qualitatively. The prevalence of CVI among children with cerebral palsy was estimated using register-based data. RESULTS: The questionnaire was answered by 17. Only three judged their habilitation centre as having sufficient competence on CVI. None of the centres used screening questionnaires systematically, and 11 reported that CVI assessment was not good enough. Awareness that a child may have CVI typically occurred during examinations for other diagnoses. The prevalence of CVI among children with cerebral palsy was only 8%, while CVI status was unknown in 33%. CONCLUSION: Better knowledge and assessment of CVI at Norwegian paediatric habilitation centres are needed. CVI appears to be often overlooked in children with neurodevelopmental disorders.

Provision of augmentative and alternative communication interventions to Norwegian preschool children with cerebral palsy: are the right children receiving interventions?

Preschool children with cerebral palsy (CP) with no or unintelligible speech need augmentative and alternative communication (AAC), but not all children needing AAC have access to it. This study describes the use and perceived benefit of AAC and explores factors associated with receiving AAC interventions. Using a cross-sectional design, we combined parent-reported data with data from the Norwegian Quality and Surveillance Registry for Cerebral Palsy (NorCP). Communication, speech and hand function was classified according to the Communication Function Classification System (CFCS), Viking Speech Scale (VSS), and Manual Ability Classification System (MACS), accordingly. The need for AAC was defined as Levels III-V on the CFCS, without simultaneous classification at VSS Level I, and/or Levels III-IV on VSS. Parents reported on child- and family-directed AAC interventions using the Habilitation Services Questionnaire. Of the 95 children (42 females) with CP (M = 39.4 months, SD = 10.3), 14 had communication aids. Of the 35 children (31.4%) defined as needing AAC, 11 had been provided with communication aids. Parents of children with a communication aid reported satisfaction with and frequent use of the aid. Children at MACS Level III-V (OR = 3.4, p = .02) or with epilepsy (OR = 8.9, p < .01) were most likely to have received an AAC intervention. The low proportion of children receiving communication aids indicates an unmet need for AAC interventions among preschool children with CP.

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.

Implementation of the C-BiLLT, an accessible instrument to assess language comprehension in children with limited motor and speech function: an international clinician survey.

This study assessed implementation of the Computer-based Instrument for Low-motor Language Testing (C-BiLLT). The C-BiLLT is an accessible language comprehension assessment tool originally developed for children with cerebral palsy and complex communication needs. The purpose of the current study was to understand the clinical contexts in which the C-BiLLT is used in the Netherlands, Belgium, and Norway and assess barriers and facilitators to implementation. An online survey was distributed to rehabilitation clinicians working in the Netherlands, Dutch-speaking parts of Belgium, and Norway. A total of 90 clinicians reported their training in and use of the C-BiLLT; assessed its acceptability, appropriateness, and feasibility; and commented on perceived barriers as well as advantages of the tool. Acceptability, appropriateness, and feasibility were all rated highly. The C-BiLLT was used with various populations and age groups but most often with children who were younger than 12 years of age, and those with cerebral palsy. The main implementation facilitator was clinicians' motivation; the main barriers were related to resources and complexity of cases. Findings suggest implementation of new assessment tools is an ongoing process that should be monitored following initial training, in order to understand clinical contexts in which the tools are being used.

Gaining super control: Psychoeducational group intervention for adolescents with mild intellectual disability and their parents.

Adolescents with intellectual disability experience psychological and social challenges in their transition to adulthood. Knowledge about the diagnosis and insight into own strengths and difficulties can help them manage the limitations and barriers they face, but suitable interventions with this purpose are scarce. The present paper presents a psychoeducational group intervention, The Super Control Project, for adolescents (15-17 years old) with mild intellectual disability (n = 23) and their parents. In a pre-post design, adolescent outcome data was obtained through teacher and parent questionnaires, and interviews with the adolescents. Parents and adolescents also evaluated the interventions' usefulness. Results indicated positive impact on participants' understanding of the diagnosis, managing of everyday challenges, and social networking. The intervention seemed to fit the participants' needs and abilities. The study encourages further implementation and rigorous evaluation.

Cognitive functioning in children with cerebral palsy.

Children with cerebral palsy (CP) have an increased risk of cognitive impairments. This narrative review of the literature discusses assessment of cognition in children with CP, presents the most salient characteristics of cognitive functioning pertaining to each subtype, and discusses the relationships between brain injury, functioning, and intervention from a developmental perspective. A search for original studies of cognitive functioning in children with different subtypes of CP was performed. The search resulted in 81 unique hits. There were few studies with a representative sample of children with CP where all participants were individually assessed. Cognitive functioning in children with the most severe motor impairments were often assumed and not assessed. Furthermore, there was a confounding of IQ below 70 and intellectual disability, possibly leading to an overestimation of the prevalence of intellectual disability. Longitudinal neuropsychological studies, including also very young children and those with the most severe speech and motor impairments, as well as intervention studies, are called for. WHAT THIS PAPER ADDS: Few studies have assessed cognition in a representative sample of children with cerebral palsy. Cognition in children with severe motor impairment is often assumed, not assessed. Lack of assessment may lead to overestimating the prevalence of intellectual disability. Lowered cognitive functioning in older children highlights the need for longitudinal studies.

Unmet rehabilitation needs in 86% of Norwegian paediatric embryonal brain tumour survivors.

AIM: To study incidence, types and degrees of late effects in a geographical cohort of paediatric medulloblastoma and central nervous system primitive neuroectodermal tumour (CNS-PNET) survivors, and identify the need for rehabilitation. METHODS: Between 1974 and 2013, 63 patients survived treatment for paediatric medulloblastoma and CNS-PNET at Oslo University Hospital, Norway. Of these, 50 accepted invitation and were included in this study. RESULTS: Median follow-up was 20 years (range 3.2-41), and 96% of participants had developed late effects. Cognitive impairment was found in 72%, reduced hearing in 68%, endocrine deficits in 66%, epilepsy in 32% and another 30% had been diagnosed with one or more second primary neoplasms. Radiotherapy significantly increased risk of secondary primary neoplasms and endocrinological deficits, chemotherapy risk of ototoxicity and endocrinological deficits, and epilepsy was found significantly more often in CNS-PNET than medulloblastoma patients. Epilepsy was the main cause of cognitive impairments (full-scale IQ) in our study. 86% of participants had an unmet rehabilitation need. CONCLUSION: Significant late effects and unmet rehabilitation needs were documented in the large majority of survivors after treatment for paediatric medulloblastoma and CNS-PNET.

Assessing language comprehension in motor impaired children needing AAC: validity and reliability of the Norwegian version of the receptive language test C-BiLLT.

Children with severe motor impairments who need augmentative and alternative communication (AAC) comprise a heterogeneous group with wide variability in cognitive functioning. Assessment of language comprehension will help find the best possible communication solution for each child, but there is a lack of appropriate instruments. This study investigates the reliability and validity of the Norwegian version of the spoken language comprehension test C-BiLLT (computer-based instrument for low motor language testing) - the C-BiLLT-Nor - and whether response modality influences test results. The participants were 238 children with typical development aged 1;2 to 7;10 (years/months) who were assessed with the C-BiLLT-Nor and tests of language comprehension and non-verbal reasoning. There was excellent internal consistency and good test-retest reliability. Tests of language comprehension and non-verbal reasoning correlated significantly with the C-BiLLT-Nor, indicating good construct validity. Factor analysis yielded a two-factor solution, suggesting it as a measure of receptive vocabulary, grammar, and overall language comprehension. No difference in results could be related to response mode, implying that gaze pointing is a viable option for children who cannot point with a finger. The C-BiLLT-Nor, with norms from 1;6-7;6 is a reliable measure of language comprehension.

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.

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Import of peroxisomal matrix proteins, crucial for peroxisome biogenesis, is mediated by the cytosolic receptors PEX5 and PEX7 that recognize proteins carrying peroxisomal targeting signals 1 or 2 (PTS1 or PTS2), respectively. Mutations in PEX5 or 12 other PEX genes cause peroxisome biogenesis disorders, collectively named the Zellweger spectrum disorders (ZSDs), whereas mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). Three additional RCDP types, RCDP2-3-4, are caused, respectively, by mutations in GNPAT, AGPS and FAR1, encoding enzymes involved in plasmalogen biosynthesis. Here we report a fifth type of RCDP (RCDP5) caused by a novel mutation in PEX5. In four patients with RCDP from two independent families, we identified a homozygous frame shift mutation c.722dupA (p.Val242Glyfs(∗)33) in PEX5 (GenBank: NM_001131023.1). PEX5 encodes two isoforms, PEX5L and PEX5S, and we show that the c.722dupA mutation, located in the PEX5L-specific exon 9, results in loss of PEX5L only. Both PEX5 isoforms recognize PTS1-tagged proteins, but PEX5L is also a co-receptor for PTS2-tagged proteins. Previous patients with PEX5 mutations had ZSD, mainly due to deficient import of PTS1-tagged proteins. Similarly to mutations in PEX7, loss of PEX5L results in deficient import of PTS2-tagged proteins only, thus causing RCDP instead of ZSD. We demonstrate that PEX5L expression restores the import of PTS2-tagged proteins in patient fibroblasts. Due to the biochemical overlap between RCDP1 and RCDP5, sequencing of PEX7 and exon 9 in PEX5 should be performed in patients with a selective defect in the import of PTS2-tagged proteins.

Experiences from a support group for families of preschool children in the expressive AAC user group.

Children using aided language need communication partners who are competent in modeling language, but most parents of children who use AAC will not have extensive experience with aided communication and will therefore need support to become competent language models. In this participatory observational study the experiences of a support group for parents of young children with age-expected language comprehension who use aided communication expressively are outlined. The group was established in 2012 at a habilitation unit in a hospital, and involved five families of children who use AAC. Field notes were taken during each group meeting and related activities. Parents and professionals agreed on the following topics for discussion: child development, aided communication, communication devices, and policy affecting AAC implementation. The group developed and implemented a range of innovative interventions: (a) a Children's Day at the hospital, (b) a communication plan template, (c) a school preparation workshop, (d) a network for teachers, (e) education of hospital staff, (f) dissemination of knowledge about AAC, and (g) making aided resources available for the ISAAC-Norway website. The aim of increasing the parents' confidence and competence was achieved through a combination of discussions and teaching. The children benefitted not only from the parents' new knowledge, but also from the interventions implemented.

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.

Cognitive assessments among children with cerebral palsy in Sweden and the use of augmentative and alternative communication and interpreters: a cross-sectional registry study.

PURPOSE: Children with cerebral palsy (CP) have an increased risk of cognitive difficulties and should be offered cognitive assessments. In Sweden, the CPCog protocol recommends children with CP undergo cognitive assessments at the start of primary and secondary school. To assess children with CP can be challenging, in particular when children are non-vocal or do not speak the local language. In such instances, augmentative and alternative communication (AAC) and qualified medical interpreters should be considered. The purpose of this study was to monitor the implementation and equitable delivery of the CPCog protocol in Sweden between the years 2017-2020. MATERIALS AND METHODS: In this cross-sectional study, registry data were extracted from the combined follow-up program and national registry for individuals with CP (CPUP), and a convenience sample of psychologists responded to an online survey. RESULTS AND CONCLUSIONS: Each year, less than 5% of eligible children had registered cognitive assessments in CPUP. There was underuse of AAC during assessments and a discrepancy between the registered versus reported use of interpreters. Psychologists perceived AAC as more reliable for cognitive assessments than interpreters. Greater availability of and capacity to offer cognitive assessments in other formats and languages could help increase test accessibility for all children with CP.Implications for RehabilitationThe cognitive assessment of children with cerebral palsy (CP) is a complex but important issue within disability and re/habilitation.Individualized cognitive assessments should be offered and carried out by psychologists.Rehabilitation centers should strive to be inclusive through reliable test adaptations for functional abilities, means of communication, and language.Greater availability of- and capacity to offer cognitive assessments in more formats and languages could help increase test accessibility for children with disabilities.

The implementation of systematic monitoring of cognition in children with cerebral palsy in Sweden and Norway.

PURPOSE: Children with cerebral palsy (CP) are at risk of cognitive impairments and need to be cognitively assessed to allow for individualized interventions, if applicable. Therefore, a systematic protocol for the follow-up of cognition in children with CP, CPCog, with assessments offered at five/six and 12/13 years of age, was developed. This report presents and discusses assessment practices in Sweden and Norway following the introduction of CPCog and a quality improvement project in Norway aimed at increasing the number of children offered cognitive assessments. MATERIALS AND METHODS: A questionnaire investigating assessment practices was sent to pediatric habilitation centers in Sweden and Norway. In Norway, the habilitation centers also participated in a quality improvement project aimed at increasing adherence to the CPCog protocol. RESULTS: Of the respondents, 64-70% report that they assess cognition in children with all degrees of motor impairment, and 70-80% assess at the ages recommended in CPCog. Following the quality improvement project in Norway, the percentage of children assessed increased from 34 to 62%. CONCLUSIONS: The findings illustrate that the provision of information is not sufficient to change practice. Implementation of new re/habilitation procedures is aided by targeting health care practices individually.Implications for rehabilitationChildren with cerebral palsy (CP) have increased risk of cognitive impairments that require intervention.Assessments of cognition should be offered to all children with CP because the nature of cognitive impairments may vary.Introducing a follow-up protocol of how and when to perform cognitive assessments is a step towards ensuring equal access to the services for all children with CP.A quality improvement project might be a viable method for implementing a protocol into everyday clinical practice.