Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.

To identify whether parent-of-origin effects (POE) of the 15q11.2 BP1-BP2 microdeletion are associated with differences in clinical features in individuals inheriting the deletion, we collected 71 individuals reported with phenotypic data and known inheritance from a clinical cohort, a research cohort, the DECIPHER database, and the primary literature. Chi-squared and Mann-Whitney U tests were used to test for differences in specific and grouped clinical symptoms based on parental inheritance and proband gender. Analyses controlled for sibling sets and individuals with additional variants of uncertain significance (VOUS). Among all probands, maternal deletions were associated with macrocephaly (p = 0.016) and autism spectrum disorder (ASD; p = 0.02), while paternal deletions were associated with congenital heart disease (CHD; p = 0.004). Excluding sibling sets, maternal deletions were associated with epilepsy as well as macrocephaly (p < 0.05), while paternal deletions were associated with CHD and abnormal muscular phenotypes (p < 0.05). Excluding sibling sets and probands with an additional VOUS, maternal deletions were associated with epilepsy (p = 0.019) and paternal deletions associated with muscular phenotypes (p = 0.008). Significant gender-based differences were also observed. Our results supported POEs of this deletion and included macrocephaly, epilepsy and ASD in maternal deletions with CHD and abnormal muscular phenotypes seen in paternal deletions.

Rethinking early intervention rehabilitation services for children with motor difficulties: engaging stakeholders in the conceptualization of telerehabilitation primary care.

PURPOSE: Rehabilitation services for children with mild motor difficulties are limited. Telehealth could be a novel avenue through which to provide these services. With the input of various stakeholder groups, this study aimed to develop a logic model for a new primary care telerehabilitation intervention and to identify influencing implementation factors. METHODS AND MATERIALS: A participatory research design was used. A logic model, developed in consultation with five healthcare managers, was discussed with four stakeholder groups. Focus groups were conducted with clinicians (n = 9), pediatric healthcare managers (n = 5), and technology information consultants (n = 2), while parents (n = 4) were interviewed to explore their perceptions of the proposed intervention, and factors influencing implementation. Transcribed discussions were analyzed using reflexive thematic analysis. RESULTS: Stakeholders supported the delivery of telerehabilitation services for children with mild motor difficulties. Although agreement was generated for each logic model component, important recommendations were voiced related to service relevance and sustainability, parent and community capacity building, and platform dependability, security, and support. Identified factors influencing the implementation encompassed consumer, provider, technological, systemic and contextual barriers and facilitators. Strategies to address them were also suggested. CONCLUSION: This study demonstrates the value of, and a process to engage stakeholders in the designing of pediatric telerehabilitation services and its implementation.IMPLICATIONS FOR PRACTICEPediatric telerehabilitation service are complex interventions which operate in complicate systems.Designing telerehabilitation services with stakeholders is recommended, yet how to do so often not clear.This study demonstrated that the development of a logic model can provide a systematic framework to helps guide the co-design process with stakeholders.Resulting recommendation underscored a broader vision for the intervention and identified crucial factors and strategies required for its successful implementation and sustainability.

Effectiveness of a home-based early cognitive-motor intervention provided in daycare, home care, and foster care settings: Changes in motor development and context affordances.

BACKGROUND: Appropriate opportunities within the context are crucial to affect the motor trajectory positively. OBJECTIVE: To investigate the effectiveness of professional-parental/caregivers' early motor-cognitive intervention on infants' motor development in Daycare (DC), Home Care (HC), and Foster Care (FC). Secondary objectives were to examine if parents and caregivers modified the context to meet the infants' needs and if making modifications was positively associated with infants' development. METHODS: Participants were 176 infants (DC = 48; HC = 58, FC = 70). Infants' were randomly assigned to intervention (IG) or comparison (CG) groups within each context. The Alberta Infant Motor Scale and Affordances in the Daycare and Home Environment for Motor Development were used. A cognitive-motor intervention was provided for infants in the intervention groups; and, a home-based support protocol for all caregivers and parents. RESULTS: IGs showed higher motor scores at post-test than CGs (p values from 0.018 to 0.026) and positive changes were observed from the pre-to-post intervention for all IGs (p ≤ .0001), and for two CGs (DC p ≤ .0001; HC p = .028). Maternal daily care and home opportunities improved for all infants. CONCLUSIONS: Parents/caregivers' protocol combined with the cognitive-motor intervention lead to better motor outcomes and changes in the context for the IGs. Only the parent/caregivers' protocol was not strong to improve CGs motor outcomes, although changes in context were found. Intensive intervention is need for infants living in vulnerability.

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.

BACKGROUND: Activity-dependent neuroprotective protein (ADNP) is one of the most prevalent de novo mutated genes in syndromic autism spectrum disorders, driving a general interest in the gene and the syndrome. AIM: The aim of this study was to provide a detailed developmental case study of ADNP p.Tyr719* mutation toward improvements in (1) diagnostic procedures, (2) phenotypic scope, and (3) interventions. METHODS: Longitudinal clinical and parental reports. RESULTS: AD (currently 11-year-old) had several rare congenital anomalies including imperforate anus that was surgically repaired at 2 days of age. Her findings were craniofacial asymmetries, global developmental delay, autistic behaviors (loss of smile and inability to make eye contact at the age of 15 months), and slow thriving as she gradually matures. Comprehensive diagnostic procedures at 3 years resulted in no definitive diagnosis. With parental persistence, AD began walking at 3.5 years (skipping crawling). At the age of 8.5 years, AD was subjected to whole exome sequencing, compared to the parents and diagnosed as carrying an ADNP p.Tyr719* mutation, a causal recurring mutation in ADNP (currently ~17/80 worldwide). Brain magnetic resonance imaging demonstrated mild generalized cerebral volume loss with reduced posterior white matter. AD is non-verbal, communicating with signs and word approximations. She continues to make slow but forward developmental progress, and her case teaches newly diagnosed children within the ADNP Kids Research Foundation. CONCLUSION: This case study emphasizes the importance of diagnosis and describes, for the first time, early motor intervention therapies. Detailed developmental profile of selected cases leads to better treatments.

Motor intervention effectiveness on children daily routine, motor, health, and psychosocial parameters / Eficácia da intervenção motora na rotina diária, e em parâmetros motores, de saúde e psicossocial de crianças

ABSTRACT For children with motor delays, the intervention effectiveness regarding children's routine, overall self-perceptions, and engagement in the lessons, have been understudied. Furthermore, specific sex differences still lack evidence. This study examines the effectiveness of mastery Climate (MC) motor intervention on girls' and boys' daily routine, motor performance, BMI, self-perceptions, and engagement, and the sex differences across these variables. Children with motor delays were randomly assigned to MC Group or Comparison Group. We assessed children's routine at home; perceived competence, social acceptance, and global self-worth; BMI; motor skills; and qualitative engagement in the lesson. Results show girls and boys increased the playtime, motor scores, perceptions of cognitive and motor competence, social acceptance, global self-worth, and engagement with success in the lessons; and, decreased TV time and free play, changing tasks, distraction, and conflicts in the lesson. In conclusion the MC intervention was effective in fostering girl's and boys' achievement.

RESUMO Para crianças com atrasos motores, a eficácia da intervenção motora em relação à rotina, autoconceito e engajamento tem sido pouco estudada. Diferenças específicas de sexo ainda carecem de evidências. Este estudo examina a eficácia da intervenção motora com o Clima para a Maestria (MC) na rotina diária de meninas e meninos, e no desempenho motor, IMC, autoconceito e engajamento; e, as diferenças entre sexo nessas variáveis. Crianças com atrasos motores foram alocadas aleatoriamente no Grupo MC ou Grupo de Comparação. Avaliamos a rotina em casa, competência percebida, aceitação social e autoestima global, IMC, habilidades motoras, e engajamento na aula. Os resultados mostraram que meninas e meninos aumentaram o tempo de brincar e os escores motores, as percepções de competência cognitiva e motora, a aceitação social, o autovalor global e o engajamento com sucesso; e diminuíram o tempo assistindo TV, e as brincadeiras livres, o mudar a tarefa, e as distrações e os conflitos na aula. Conclui-ise que a intervenção MC foi eficaz em promover o desempenho de meninas e meninos.

Household size is associated with unintelligible speech in children who have intellectual disabilities: A South African study.

OBJECTIVE: The purpose of this study was to examine whether four socioeconomic factors, namely caregiver age, caregiver education, family income and/or household size were related to the presence of motor delays or unintelligible speech in South African children with intellectual disabilities. METHODS: Caregivers of children with intellectual disabilities completed a biographical questionnaire regarding their home environments. Other items on the questionnaire queried whether their children experienced co-occurring developmental impairments of motor delays or unintelligible speech. RESULTS: A total of 145 caregivers were included in the analyses. Two logistic regressions were run with the set of four socioeconomic factors as predictors, and motor delays and intelligible speech as the outcome variables. Household size was a statistically significant predictor of whether children evidenced intelligible speech. CONCLUSION: Children living in dwellings with more people were less likely to have intelligible speech. The processes through which large household size might influence children's language are discussed.

Identifying premature infants at high and low risk for motor delays using motor performance testing and MRS.

PURPOSE: To determine specific motor skills in premature infants, match those that correlate with standards tests of motor performance, and MRS measures of abnormal brain biochemistry. METHODS: Prospective cohort study of preterm infants (n=22). Infant motor assessments were completed at term and 12 weeks corrected gestational age (CGA) using the Test of Infant Motor Performance (TIMP) and Bayley Scales of Infant and Toddler Development-III at 12 months CGA. Infants (n=12) received MRS scans at term CGA. Rasch analysis and MRS findings investigated TIMP items well targeted to high and low risk infants. RESULTS: A 10 item subset of motor skill items correlated strongly with full 42-item TIMP at term and 12 week testing (r> 0.90, p< 0.001 for both), and with Bayley gross motor scores. MRS metabolites in basal ganglia correlated significantly with both TIMP and 10 item motor tests at term, while frontal white matter metabolites correlated with TIMP and 10 item tests at 12 weeks and Bayley motor scores. CONCLUSION: A short motor skill assessment may be representative of a longer standardized test and relate to brain metabolic function in key areas for motor movement and development. Validation of a shortened assessment may improve early identification of high-risk preterm infants.

Motor delays: early identification and evaluation.

Pediatricians often encounter children with delays of motor development in their clinical practices. Earlier identification of motor delays allows for timely referral for developmental interventions as well as diagnostic evaluations and treatment planning. A multidisciplinary expert panel developed an algorithm for the surveillance and screening of children for motor delays within the medical home, offering guidance for the initial workup and referral of the child with possible delays in motor development. Highlights of this clinical report include suggestions for formal developmental screening at the 9-, 18-, 30-, and 48-month well-child visits; approaches to the neurologic examination, with emphasis on the assessment of muscle tone; and initial diagnostic approaches for medical home providers. Use of diagnostic tests to evaluate children with motor delays are described, including brain MRI for children with high muscle tone, and measuring serum creatine kinase concentration of those with decreased muscle tone. The importance of pursuing diagnostic tests while concurrently referring patients to early intervention programs is emphasized.

A ecologia do desenvolvimento motor de escolares litorâneos do nordeste do Brasil / The ecology of motor development in coastal school children of Brazil northeast

FUNDAMENTAÇÃO: a prevalência de atrasos motores (AM) em escolares é um fenômeno intercultural que atua principalmente em crianças desfavorecidas socioeconomicamente. OBJETIVO: avaliar a proficiência motora (PM) de escolares da rede pública do Ensino Fundamental I de um município litorâneo da Região Nordeste do Brasil e interpretar o mesmo à luz do Modelo Bioecológico. MÉTODO: trata-se de um estudo de abordagem mista, qualitativo e quantitativo. A parte quantitativa do trabalho fez uso do Test of Gross Motor Development Edition 2 para avaliar o desempenho motor nas habilidades motora fundamentais de 104 crianças com idades entre 7 e 10 anos, 56 meninos (8,2 ± 1,0 anos) e 48 meninas (8,3 ± 0,9 anos). Para parte qualitativa, o pesquisador inseriu-se ecologicamente no contexto e fez uso de observação assistemática não participante e entrevistas a 7 Representantes de Pais, 7 professores de educação física e 11 professoras polivalentes de diferentes escolas. Análise dos dados: os dados qualitativos foram organizados mediante a síntese da análise de conteúdo. Os dados quantitativos foram tratados por meio de estatística descritiva (média, desvio padrão, distribuição de frequência) e estatística inferencial (Teste t de Student). RESULTADOS: verificou-se que 95,1% das crianças apresentaram AM para habilidades locomotoras e 81,7% para habilidades manipulativas, com maior prejuízo para o sexo feminino nas habilidades manipulativas (p < 0,001)...(AU)

BACKGROUND: The prevalence of motor delays (MD) in schoolchildren is an intercultural phenomenon which is particularly present among socio-economically disadvantaged children. OBJECTIVE: to describe and explain the proximal processes for the development of fundamental motor skills (FMS) in schoolchildren from an elementary school (ES) in a coastal city in the Northeast of Brazil. the objective of this study was to describe and explain the proximal processes for the development of fundamental motor skills (FMS) in schoolchildren from an elementary school (ES) in a coastal city in the Northeast of Brazil. METHODS: This was a quali-quantitative study. The quantitative aspect was characterized by the use of the Test of Gross Motor Development Edition 2 to evaluate the fundamental motor skills of 104 children from 7 to 10 years old, 56 boys (8.2±1.0 years) and 48 girls (8.3 ± 0.9 years). Regarding the qualitative aspect, the researcher ecologically placed himself in the context and used non-systematic and non-participant observations and interviews with 7 parents, representing the parents-board of the school, 7 Physical Education teachers and 11 classroom teachers from different schools. : the qualitative data were organized using the content analysis synthesis. The quantitative data were treated using descriptive statistics (mean, standard deviation, distribution and frequencies) and inferential statistics (Student t-test). RESULTS: The results revealed that 95.1% of children present MD in locomotor skills and 81.7% in object control skills; girls showed poorer performance compared to boys (p < 0.001)...(AU)

A ecologia do desenvolvimento motor de escolares litorâneos do nordeste do Brasil / The ecology of motor development in coastal school children of Brazil northeast

FUNDAMENTAÇÃO: a prevalência de atrasos motores (AM) em escolares é um fenômeno intercultural que atua principalmente em crianças desfavorecidas socioeconomicamente. OBJETIVO: avaliar a proficiência motora (PM) de escolares da rede pública do Ensino Fundamental I de um município litorâneo da Região Nordeste do Brasil e interpretar o mesmo à luz do Modelo Bioecológico. MÉTODO: trata-se de um estudo de abordagem mista, qualitativo e quantitativo. A parte quantitativa do trabalho fez uso do Test of Gross Motor Development Edition 2 para avaliar o desempenho motor nas habilidades motora fundamentais de 104 crianças com idades entre 7 e 10 anos, 56 meninos (8,2 ± 1,0 anos) e 48 meninas (8,3 ± 0,9 anos). Para parte qualitativa, o pesquisador inseriu-se ecologicamente no contexto e fez uso de observação assistemática não participante e entrevistas a 7 Representantes de Pais, 7 professores de educação física e 11 professoras polivalentes de diferentes escolas. Análise dos dados: os dados qualitativos foram organizados mediante a síntese da análise de conteúdo. Os dados quantitativos foram tratados por meio de estatística descritiva (média, desvio padrão, distribuição de frequência) e estatística inferencial (Teste t de Student). RESULTADOS: verificou-se que 95,1% das crianças apresentaram AM para habilidades locomotoras e 81,7% para habilidades manipulativas, com maior prejuízo para o sexo feminino nas habilidades manipulativas (p < 0,001)...

BACKGROUND: The prevalence of motor delays (MD) in schoolchildren is an intercultural phenomenon which is particularly present among socio-economically disadvantaged children. OBJECTIVE: to describe and explain the proximal processes for the development of fundamental motor skills (FMS) in schoolchildren from an elementary school (ES) in a coastal city in the Northeast of Brazil. the objective of this study was to describe and explain the proximal processes for the development of fundamental motor skills (FMS) in schoolchildren from an elementary school (ES) in a coastal city in the Northeast of Brazil. METHODS: This was a quali-quantitative study. The quantitative aspect was characterized by the use of the Test of Gross Motor Development Edition 2 to evaluate the fundamental motor skills of 104 children from 7 to 10 years old, 56 boys (8.2±1.0 years) and 48 girls (8.3 ± 0.9 years). Regarding the qualitative aspect, the researcher ecologically placed himself in the context and used non-systematic and non-participant observations and interviews with 7 parents, representing the parents-board of the school, 7 Physical Education teachers and 11 classroom teachers from different schools. : the qualitative data were organized using the content analysis synthesis. The quantitative data were treated using descriptive statistics (mean, standard deviation, distribution and frequencies) and inferential statistics (Student t-test). RESULTS: The results revealed that 95.1% of children present MD in locomotor skills and 81.7% in object control skills; girls showed poorer performance compared to boys (p < 0.001)...