O uso da Classificação Internacional de Funcionalidade Incapacidade e Saúde (CIF) na avaliação da funcionalidade de crianças com Síndrome de Deleção 22q11.2 (22q11.2DS) / The use of the International Classification of Functioning, Disability and Health (ICF) in assessing the functionality of children with the 22q11.2 Deletion Syndrome (22q11.2DS)

Introdução: Crianças com a síndrome de deleção 22q11.2 (22q11.2DS) tem os quatro domínios de sua funcionalidade bastante comprometida. Um instrumento baseado na Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF) para crianças com 22q11.2DS pode ser uma avaliação inovadora. Contudo, não são conhecidos instrumentos confiáveis e válidos baseados na CIF aplicado neste contexto e não há propostas de padronização para sua implementação. Objetivo: Analisar a utilização da CIF para a avaliação de funcionalidade de crianças e adolescentes com 22q11.2DS. Métodos: Estudo descritivo, e transversal. Para identificar as categorias mais relevantes da CIF para 22q11.2DS e criação de uma ficha de avaliação de funcionalidade, foi utilizada a metodologia Delphi. Para avaliar a Funcionalidade de crianças e adolescentes com 22q11.2DS foi aplicado um questionário baseado na CIF aplicado em crianças de 7 a 12 anos com 22q11.2DS. Também foi aplicada a Escala de Inteligência Abreviada de Wechsler (WASI) para determinar o QI em escala real, verbal e de desempenho. Para avaliar a utilização do questionário baseado na CIF para crianças com 22q11.2DS, foi realizado um grupo focal com os profissionais que realizaram a avaliação. Resultados: Foram apresentados em formato de dois artigos. Através do Delphi foram selecionadas 145 categorias da CIF que abrangem os quatro domínios da CIF: Funções do Corpo, Estruturas do Corpo, Atividades, Participação e Fatores Ambientais, posteriormente transformadas em questionário de perguntas dicotômicas. Este questionário juntamente com o WASI foi aplicado em 7 crianças de adolescentes com média de idade 10,28 anos. Todas as crianças apresentaram algum comprometimento do QI. Foram observados comprometimentos em todas as categorias da CIF na amostra, principalmente a estrutura do nariz, funções de fluência e ritmo da fala e funções intelectuais, limitações e restrições no referente à produção de mensagens não verbais, comunicação, manejo do estresse e interação social. A aplicação deste tipo de instrumento foi considerada adequada segundo os profissionais de saúde, embora relatarem problemas de compreensão de algumas perguntas e tempo de aplicação elevado, apesar de ser uma lista reduzida. Conclusão: As informações obtidas com o uso da CIF podem contribuir para melhorar a compreensão interdisciplinar da situação de crianças com 22q11.2DS. Contudo, o instrumento de avaliação de funcionalidade criado ainda precisa ser aprimorado.

Introduction: Children with the 22q11.2 deletion syndrome (22q11.2DS) have the four domains of their functioning affected. An instrument based on the International Classification of Functioning, Disability and Health (ICF) for children with 22q11.2DS could be an innovative assessment. However, there are no known reliable and valid instruments based on the ICF applied to this context and there are no standardization proposals for its implementation. Purpose: To examine the use of the ICF for functioning assessment of children and adolescents with 22q11.2DS. Methods: Descriptive, cross-sectional study. To identify the most relevant ICF categories for 22q11.2DS and to create a functioning assessment form, the Delphi methodology was used. To assess functioning of children and adolescents with 22q11.2DS, an ICF-based questionnaire was applied to children aged 7 to 12 years with 22q11.2DS. The Wechsler Abbreviated Intelligence Scale (WASI) was also applied to determine real-scale, verbal and performance IQ. To assess the use of the ICF-based questionnaire for children with 22q11.2DS, a focus group was held with the professionals who performed the assessment. Results: Presented in two articles. Through Delphi, 145 ICF categories were selected, covering the four ICF domains: Body Functions, Body Structures, Activities, Participation and Environmental Factors, later transformed into a questionnaire with dichotomous questions. This questionnaire along with the WASI was applied to 7 children and adolescents with a mean age of 10.28 years. All children showed some impairment of IQ. Impairments were observed in all ICF categories in the sample, especially the structure of the nose, speech fluency and rhythm functions and intellectual functions, limitations and restrictions regarding the production of non verbal messages, communication, stress management and social interaction. The application of this type of instrument was considered adequate according to health professionals, although they reported problems in understanding some questions and found to be time consuming, despite being a shortened list. Conclusion: The information obtained using the ICF can contribute to improve the interdisciplinary understanding of the situation of 22q11.2DS children. However, the functioning assessment instrument created still needs to be improved.

Speech Therapy in Velocardiofacial Syndrome After Palatopharyngeal Pharyngoplasty.

Velocardiofacial syndrome (VCFs) is a rare congenital disease with an incidence of 1:4000 to 1:6000. Previous studies have found that the abnormality is associated with 22qDS. As reported at the international VCFs conference held in 2006, >180 phenotypes have been identified with this syndrome. Accordingly, there is a wide range of clinical manifestations including congenital defects of the heart and palate, immune deficiencies, psychiatric illness, and speech, learning, and cognitive disabilities Among all the symptoms above, however, pharyngopalatine dysplasia has been observed in nearly every patient. Patients with VCFs often have velopharyngeal insufficiency, which may cause serious disorders in functional speech, with poor intelligibility, a glottal stop with hypernasality and a pharyngeal fricative, and dropping and weakening of consonants. Most also show defects in language learning. Therefore, specialized speech therapy is essential for patients with VCFs, mainly focused on correction of abnormal pronunciation. Long-term clinical experience has shown that speech therapy is based on 2 components: velopharyngeal function and behavior therapy. Our study focused mainly on establishing a corrective behavior guidance model of pronunciation for patients with VCFs.

Cardiac rehabilitation in an adolescent with DiGeorge Syndrome.

BACKGROUND: DiGeorge Syndrome is a rare disease that has variable clinical symptoms resulting from 22q11 deletions, included cardiac abnormality, abnormal face and thymic aplasia, and cognitive impairment. There was a no reports regarding the efficiency of cardiac rehabilitation (CR) in patients with DiGeorge Syndrome with tetralogy of Fallot. CASE REPORT: A 15-year-old girl with DGS visited our CR center. The patient carried out the exercise training 3 times a week for 6 weeks, using a treadmill with electrocardiogram monitoring. Exercise tolerance testing and Quality of life assessment were performed before and after 6 weeks of training. Improvement of aerobic capacity was not represented, but by her own estimation, her performance ability of daily activities was better than before. CLINICAL REHABILITATION IMPACT: Even though adolescents with congenital heart disease often limit themselves, or are restricted by others, from physical activity, CR should be recommended as a comprehensive health promotion strategy.

Using the iPad to facilitate interaction between preschool children who use AAC and their peers.

Social interaction is one of the key components of education, yet children with complex communication needs often face social isolation in the classroom, rarely interacting with same-age peers. This study investigated the impact of the provision of an iPad(®) (1) with an AAC app with visual scene displays and a dyadic turn taking training on the number of communicative turns taken by children with complex communication needs in interaction with same-age peers. Two preschool children with complex communication needs and six peers without disabilities participated in this research. A single-subject, multiple probe across partners design with one replication was used to evaluate the effectiveness of the intervention on the frequency of communicative turns expressed by the children with complex communication needs. Parents, teachers, speech-language pathologists, and the children participated in social validation measures. As a result of intervention, Participant 1 showed immediate gains in the frequency of symbolic communicative turns after the first training session across all three partners (average gains of 30-46 symbolic communicative turns per 10-min session across peer partners). Participant 2 showed some initial gains, but they were not maintained over time (average gains of 11-24 turns across partners). Classroom implications and future research directions are discussed.

Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention.

BACKGROUND: Children with chromosome 22q11.2 deletion syndrome (22q11DS) often have deficits in social cognition and social skills that contribute to poor adaptive functioning. These deficits may be of relevance to the later occurrence of serious psychiatric illnesses such as schizophrenia. Yet, there are no evidence-based interventions to improve social cognitive functioning in children with 22q11DS. METHODS: Using a customised social cognitive curriculum, we conducted a pilot small-group-based social cognitive training (SCT) programme in 13 adolescents with 22q11DS, relative to a control group of nine age- and gender-matched adolescents with 22q11DS. RESULTS: We found the SCT programme to be feasible, with high rates of compliance and satisfaction on the part of the participants and their families. Our preliminary analyses indicated that the intervention group showed significant improvements in an overall social cognitive composite index. CONCLUSIONS: SCT in a small-group format for adolescents with 22q11DS is feasible and results in gains in social cognition. A larger randomised controlled trial would permit assessment of efficacy of this promising novel intervention.

A comparative study of educational provision for children with neurogenetic syndromes: parent and teacher survey.

BACKGROUND: A number of neurogenetic syndromes have a high association with special educational needs including fragile X syndrome (FXS), Prader-Willi syndrome (PWS), Williams syndrome (WS) and Velo-Cardio-Facial syndrome (VCFS). There is a paucity of research on educational provision for children affected by these syndromes. METHOD: Parents (n = 381) and teachers (n = 204) of school-aged children with one of the four syndromes in the UK and Ireland were surveyed in a range of areas concerning the child's educational provision. Areas surveyed included school placement, views on the needs of children with the syndromes, desired changes to current provision and perceived teacher knowledge. RESULTS: School placement in mainstream settings decreased with age in all of the syndromes. Males with the syndromes were more likely to be in specialised educational settings with the exception of WS. Teachers reported limited input on initial or subsequent training for all of the syndromes. The majority of teachers did not view the needs of children with syndromes as different from other children with intellectual disability (ID) although there were significant differences between the syndromes. Changes deemed necessary to provision by parents and teachers differed between the syndromes indicating the existence of perceptions of syndrome specific needs. The lowest perceived level of teacher knowledge was in the VCFS group. CONCLUSION: The majority of teachers of children with neurogenetic syndromes report limited knowledge of the syndromes, but also a lack of belief that the children's needs are different from the majority of children with ID. Differences between the syndromes in some areas of provision suggest that a child's syndrome does impact on educational provision in some areas.

Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome.

BACKGROUND: Children with 22q11.2 deletion syndrome (22q11DS) are at risk for social-behavioural and neurocognitive sequelae throughout development. The current study examined the impact of family environmental characteristics on social-behavioural and cognitive outcomes in this paediatric population. METHOD: Guardians of children with 22q11DS were recruited through two medical genetics clinics. Consenting guardians were asked to complete several questionnaires regarding their child's social, emotional and behavioural functioning, as well as family social environment and parenting styles. Children with 22q11DS were asked to undergo a cognitive assessment, including IQ and achievement testing, and measures of attention, executive function and memory. RESULTS: Modest associations were found between aspects of the family social environment and parenting styles with social-behavioural and cognitive/academic outcomes. Regression models indicated that physical punishment, socioeconomic status, parental control and family organisation significantly predicted social-behavioural and cognitive outcomes in children with 22q11DS. CONCLUSION: Characteristics of the family social environment and parenting approaches appear to be associated with functional outcomes of children with 22q11DS. Understanding the impact of environmental variables on developmental outcomes can be useful in determining more effective targets for intervention. This will be important in order to improve the quality of life of individuals affected by 22q11DS.

A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome.

The present study sought to examine the longitudinal psychoeducational, neurocognitive, and psychiatric outcomes of children and adolescents with chromosome 22q11.2 deletion syndrome (22q11DS), a population with a high incidence of major psychiatric illnesses appearing in late adolescence/early adulthood. Little is known of the developmental changes that occur in the early teen years, prior to the age of highest psychosis risk. Data were collected from 71 participants (42 subjects with 22q11DS and 29 control subjects) at Time 1 (T1) and Time 2 (T2), approximately 3.5 years later. The 22q11DS group was significantly lower functioning than controls on IQ, neurocognition, and academic achievement at both T1 and T2. Children with 22q11DS also showed significantly greater social-behavioral difficulties and psychiatric symptoms, and were more likely to meet criteria for psychiatric disorders at both time points. In evaluating change over time from T1 to T2, the 22q11DS group did not show significant changes in psychoeducational or psychiatric outcomes relative to the controls, however, lack of expected age-related gains in attention regulation were noted. Within the 22q11DS group, an increase in the Attenuated Prodrome for Schizophrenia (number of psychiatric symptoms) was noted from T1 to T2 and four children with 22q11DS met criteria for Psychosis for the first time. Predictors at T1 that uncovered psychopathology symptoms at T2 included full-scale IQ, externalizing symptoms, and problem social behaviors. Overall, younger adolescent and preadolescent children with 22q11DS in this study exhibited slowed growth in attention regulation, with an increase in subclinical symptoms of schizophrenia, suggestive of increasing impairments in domains that are relevant to the high risk of Schizophrenia. Early predictors of later psychopathology included both cognitive and behavioral abnormalities. These findings begin to elucidate the trajectory of changes in psychopathology in children with 22q11DS in the years leading up to the onset of major psychiatric illnesses.

Inspiratory muscle strength training in infants with congenital heart disease and prolonged mechanical ventilation: a case report.

BACKGROUND AND PURPOSE: Inspiratory muscle strength training (IMST) has been shown to improve maximal pressures and facilitate ventilator weaning in adults with prolonged mechanical ventilation (MV). The purposes of this case report are: (1) to describe the rationale for IMST in infants with MV dependence and (2) to summarize the device modifications used to administer training. CASE DESCRIPTION: Two infants with congenital heart disease underwent corrective surgery and were referred for inspiratory muscle strength evaluation after repeated weaning failures. It was determined that IMST was indicated due to inspiratory muscle weakness and a rapid, shallow breathing pattern. In order to accommodate small tidal volumes of infants, 2 alternative training modes were devised. For infant 1, IMST consisted of 15-second inspiratory occlusions. Infant 2 received 10-breath sets of IMST through a modified positive end-expiratory pressure valve. Four daily IMST sets separated by 3 to 5 minutes of rest were administered 5 to 6 days per week. The infants' IMST tolerance was evaluated by vital signs and daily clinical reviews. OUTCOMES: Maximal inspiratory pressure (MIP) and rate of pressure development (dP/dt) were the primary outcome measures. Secondary outcome measures included the resting breathing pattern and MV weaning. There were no adverse events associated with IMST. Infants generated training pressures through the adapted devices, with improved MIP, dP/dt, and breathing pattern. Both infants weaned from MV to a high-flow nasal cannula, and neither required subsequent reintubation during their hospitalization. DISCUSSION: This case report describes pediatric adaptations of an IMST technique used to improve muscle performance and facilitate weaning in adults. Training was well tolerated in 2 infants with postoperative weaning difficulty and inspiratory muscle dysfunction. Further systematic examination will be needed to determine whether IMST provides a significant performance or weaning benefit.

Teaching Latino parents to support the multi-symbol message productions of their children who require AAC.

Many children who require augmentative and alternative communication (AAC) have difficulties shifting from the single- to multi-symbol stage of language development. Ensuring that children who use AAC receive evidence-based interventions to address this problem is critical. Furthermore, there has been little AAC treatment efficacy research to date that addresses the needs of multicultural populations, particularly those of Latino children who use AAC and their families. To address these issues, the current investigation used a mixed methodology, which included a focus group to determine if any changes needed to be made to an existing instructional program; and a single subject, multiple probe, across participants design to evaluate the effects of a caregiver instructional program on the multi-symbol utterance productions of Latino children who used AAC. Specifically, a cognitive strategy instructional approach that has been used to teach turn-taking skills to both Caucasian and African American children who use AAC was modified and used to teach caregivers how to support the production of their children's multi-symbol messages. In order to foster emergent literacy skills, caregivers implemented the strategy during book reading activities. Focus group results revealed that changes to the instructional program may be required for some Latino families. With regard to the instructional program, all caregivers successfully learned to use the instructional strategy, and all children increased their use of multi-symbol messages. Research and clinical implications of the findings are discussed.

[Epiphysiolysis capitis femoris as a possible complication of hypoparathyroidism in partial Di George syndrome]. / Epiphysiolysis capitis femoris als mögliche Komplikation eines Hypoparathyreoidismus bei partiellem Di George Syndrom.

We report on a 2-year old boy with the characteristic features of Di George syndrome. The diagnosis was confirmed by history, biochemical, immunologic and radiologic findings. After physical exercise he developed an unilateral epiphysiolysis capitis femoris, rarely seen in this age and not known to be a complication of hypoparathyroidism.