Background. Developmental coordination disorder (DCD) is a common, chronic health condition that is poorly recognized and understood in school settings. Without appropriate support, children with DCD ...are at increased risk of depression, decreased fitness, and obesity. Evidence shows that occupational therapy intervention needs to shift from remediation of impairment to chronic disease management.
Purpose. This paper describes Partnering for Change (P4C), an innovative, empirically derived school health service delivery model for children with DCD.
Key Issues. The model emphasizes the partnership of the occupational therapist with educators and parents to change the life and daily environment of a child. The P4C partnership focuses on capacity building through collaboration and coaching in context. The model uses a tiered approach which includes whole class instruction, dynamic performance analysis, and monitoring response to intervention.
Implications. P4C is a model that responds to the needs of this population, addresses issues identified in research, and provides a continuum of services designed to build capacity.
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NUK, OILJ, SAZU, UKNU, UL, UM, UPUK, VSZLJ
Abstract
An accurate and well-rounded understanding of child development is essential to optimize child functioning and health. The First Six Years Developmental Attainments chart empowers clinicians ...to give parenting guidance and to evaluate age-specific developmental attainment of their pediatric patients. A practical knowledge translation tool, the chart integrates a comprehensive array of developmental skill attainments, citing the range of sources from classic to current literature. It includes definitions, explanations, and examples for skills, attainment age range, percentile, and oldest age of attainment where available so that the reader can ‘estimate the age’ for a child’s skills in each developmental sector. Sub-headings focus the clinician’s search for skills. This updated office reference is of critical use when clinicians guide parents with strategies suited to the child’s level of developmental skills. With levels of evidence described, this clinical tool could be used for future national or international studies to develop strategies most useful for clinicians, trainees of different levels, and parents supporting child development.
Graphical Abstract
Graphical Abstract
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial features, congenital heart defects, and skin abnormalities. Several germline gain-of-function mutations ...in the RAS/RAF/MEK/ERK pathway are associated with the disease, including
, and
. CFC syndrome thus belongs to a group of disorders known as RASopathies, which are all caused by pathogenic mutations in various genes encoding components of the RAS pathway. We recently identified novel variants in
, a 14-3-3 family member, in individuals with a phenotype consistent with CFC that may potentially be deleterious and disease-causing. In the current study, we take advantage of the vertebrate model
to analyze the functional consequence of a particular
variant, S230W, and investigate the molecular mechanisms underlying its activity. We show that compared with wild type
, the S230W variant induces severe embryonic defects when ectopically expressed in early
embryos. The S230W variant also rescues the defects induced by a dominant negative FGF receptor more efficiently and enhances Raf-stimulated Erk phosphorylation to a higher level than wild type
. Although neither
nor the variant promotes membrane recruitment of Raf proteins, the variant binds to more Raf and escapes phosphorylation by casein kinase 1a. Our data provide strong support to the hypothesis that the S230W variant of
is a gain-of-function mutation in the RAS-ERK pathway and may underlie a CFC phenotype.
Introduction
A recently developed service delivery model, called Partnering for Change, encourages collaboration between occupational therapists, educators and families, and aims to improve ...children’s participation across school, home and community settings. Partnering for Change has been successful in facilitating equitable access to services and eliminating wait lists; however, it could have a more significant impact through improved capacity-building with families. The purpose of this study is to describe the factors that therapists view as influencing the development of family–therapist relationships in Partnering for Change, and to explore their ideas to improve relationship-building.
Methods
Focus groups were completed with 15 occupational therapists who provided Partnering for Change school-based services. Qualitative description methodology and directed content analysis were utilized.
Results
Several factors were identified that influenced the development of family–therapist relationships including competing demands; consistency and availability; awareness, readiness and commitment; relationships with schools and educators; and sociodemographic characteristics. Increasing in-person interactions and awareness of occupational therapy services were suggested to improve relationship-building.
Conclusions
Therapists should consider innovative ways of overcoming competing demands, utilizing relationships with schools and educators, and participating in mentorship and communities of practice to address the current barriers of family–therapist relationships, and create better opportunities for collaboration.
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NUK, OILJ, SAZU, UKNU, UL, UM, UPUK, VSZLJ
We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of
, as reported in Beckwith-Wiedemann ...syndrome, and a 15q terminal deletion, including the
(
), resulting in haploinsufficiency for this gene. The patient was born with measurements appropriate for her gestational age but experienced growth retardation in early childhood, allowing a better comprehension of the IGF system in the pathophysiology of growth. It is possible that IGF-II plays a key role in fetal growth, independently of IGF1R signaling, and that its role is less important in post-natal growth, leaving IGF-I and growth hormone as the main actors.
Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. Next ...generation sequencing allowed the description of other phenotypes, including early-onset epileptic encephalopathy in two patients. We report on three more patients carrying ATP1A3 mutations with a close phenotype and discuss the relationship of this phenotype to alternating hemiplegia of childhood.
The patients’ DNA underwent next generation sequencing. A retrospective analysis of clinical case records is reported.
Each of the three patients had an unreported heterozygous de novo sequence variant in ATP1A3. These patients shared a similar phenotype characterized by early-onset attacks of movement disorders, some of which proved to be epileptic, and severe developmental delay. (Hemi)plegic attacks had not been considered before genetic testing.
Together with the two previously reported cases, our patients confirm that ATP1A3 mutations are associated with a phenotype combining features of early-onset encephalopathy, epilepsy and dystonic fits, as in the most severe forms of alternating hemiplegia of childhood, but in which (hemi)plegic attacks are absent or only suspected retrospectively.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
Rubinstein‐Taybi syndrome (RSTS; OMIM 180849) is an autosomal dominant developmental disorder characterized by facial dysmorphism, broad thumbs and halluces associated with intellectual disability. ...RSTS is caused by alterations in CREBBP (about 60%) and EP300 genes (8%). RSTS is often diagnosed at birth or during early childhood but generally not suspected during antenatal period. We report nine cases of well‐documented fetal RSTS. Two cases were examined after death in utero at 18 and 35 weeks of gestation and seven cases after identification of ultrasound abnormalities and termination of pregnancy. On prenatal sonography, a large gallbladder was detected in two cases, and brain malformations were noted in four cases, especially cerebellar hypoplasia. However, the diagnosis of RSTS has not been suggested during pregnancy. Fetal autopsy showed that all fetuses had large thumbs and/or suggestive facial dysmorphism. A CREBBP gene anomaly was identified in all cases. Alterations were similar to those found in typical RSTS children. This report will contribute to a better knowledge of the fetal phenotype to consider the hypothesis of RSTS during pregnancy. Genotyping allows reassuring genetic counseling.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Rehabilitation services in education settings are evolving from pull-out interventions focused on remediation for children and youth with special education needs to inclusive whole-school tiered ...approaches focused on participation. A limited number of discipline-specific practice models for tiered services currently exist. However, there is a paucity of explanatory theory. This realist synthesis was conducted as a first step towards developing a middle-range explanatory theory of tiered rehabilitation services in education settings. The guiding research question was: What are the outcomes of successful tiered approaches to rehabilitation services for children and youth in education settings, in what circumstances do these services best occur, and how and why? An expert panel identified assumptions regarding tiered services. Relevant literature (n = 52) was located through a systematic literature review and was analysed in three stages. Several important contextual characteristics create optimal environments for implementing tiered approaches to rehabilitation services via three main mechanisms: (a) collaborative relationships, (b) authentic service delivery, and (c) reciprocal capacity building. Positive outcomes were noted at student, parent, professional, and systems levels. This first-known realist synthesis regarding tiered approaches to rehabilitation services in education settings advances understanding of the contexts and mechanisms that support successful outcomes.
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BFBNIB, DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease ...loci and whole-exome sequencing in four unrelated multiplex families presenting with severe AMC, we identified biallelic loss-of-function mutations in LGI4 (leucine-rich glioma-inactivated 4). LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons. Immunolabeling experiments and transmission electron microscopy of the sciatic nerve from one of the affected individuals revealed a lack of myelin. Functional tests using affected individual-derived iPSCs showed that these germline mutations caused aberrant splicing of the endogenous LGI4 transcript and in a cell-based assay impaired the secretion of truncated LGI4 protein. This is consistent with previous studies reporting arthrogryposis in Lgi4-deficient mice due to peripheral hypomyelination. This study adds to the recent reports implicating defective axoglial function as a key cause of AMC.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
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