Ambulatory pediatricians: how to bridge the gaps in diagnosis and care coordination for neurodevelopmental disorders in France.

Introduction And Aims: The organization of healthcare pathways for neurodevelopmental disorders (NDD) relies on different levels of expertise depending on the complexity of these disorders. NDDs affect between 8% and 15% of children. Historically, national recommendations and healthcare planning measures were initially devoted to autism spectrum disorders and were gradually extended to Attention deficit hyperactivity disorder (ADHD) and specific learning and development disorders.

Healthcare pathways and practitioners' knowledge about ADHD in children.

Introduction: Access to care for children and adolescents affected by ADHD in France remains below the levels attained in most industrialised countries. To contribute to improving ADHD care in France, we assessed existing ADHD knowledge among medical doctors (MDs) and described associated care pathways in two large French regions in 2021. We produced tools to evaluate the regional impact of implementing a stepped-care pathway for ADHD.

Lockdown in France: Impact on Families of Young Children With Special Needs.

Background: Families with young children have faced serious challenges during the first lockdown as a result of the COVID-19 pandemic. In addition to remote working, parents have had to monitor their children's schoolwork and manage their daily lives. When one of the children also has neuro-developmental disorders, this results in an increased burden.

The Organization of Diagnosis, Care and Funding for Specific Learning and Developmental Disorders (SLDD): A French Regional Experimental Protocol.

Access in France to early diagnosis and care for the most severe, but infrequent, Neurodevelopmental Disorders (NDD), autism spectrum disorder and global developmental delay, in children aged 0-7 was improved through measures implemented in 2019. However, there are no such measures for specific learning disorders (SLD), attention, motricity and language disorders (SLDD), despite their annual incidence of between 5 and 8%. We describe the design of a new type of organization and financing of care for SLDD including evaluation procedure, as well as other factors, mainly at the prevention level that will contribute to local and national policy for this frequent health problem.

External Validation of BMT- Computerized Test Battery for Diagnosis of Learning Disabilities.

Learning disabilities (LDs) are a major public health issue, affecting cognitive functions and academic performance for 8% of children. If LDs are not detected early and addressed through appropriate interventions, they have a heavy impact on these children in the social, educational, and professional spheres, at great cost to society. The BMT- (Batterie Modulable de Tests informatisée, or "computerized Adaptable Test Battery") enables fast, easy, reliable assessments for each cognitive domain.

[The private pediatrician in the clinical care pathway for children affected by specific learning disorders in France].

The clinical care pathway for children presenting specific learning disorders, including language, motor coordination, and attention disorders is based on different levels of assessment by the professionals involved. In France, a first step of organization was established in 2002 by founding of a network of structures devoted to clinical assessment of complex cases, research, and teaching for the professionals involved. Although this organization proved to contribute an essential service, the demand largely exceeded the availability of access.

Ribosomal protein S19 expression during erythroid differentiation.

The gene encoding ribosomal protein S19 (RPS19) has been shown to be mutated in 25% of the patients affected by Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia. As the role of RPS19 in erythropoiesis is still to be defined, we performed studies on RPS19 expression during terminal erythroid differentiation. Comparative analysis of the genomic sequences of human and mouse RPS19 genes enabled the identification of 4 conserved sequence elements in the 5' region.

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.

Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia that usually presents early in infancy and is inherited in 10% to 20% of cases. Linkage analysis has shown that DBA in many of both dominant and recessive DBA families mapped to chromosome 19q13.2 leading to the cloning of a gene on chromosome 19q13.

Diamond-Blackfan anemia.

Diamond-Blackfan Anemia (DBA) is a rare, congenital hypoplastic anemia often diagnosed early in infancy. A moderate to severe aregenerative anemia is found in association with erythroblastopenia in an otherwise normocellular bone marrow. In 40% of these infants with DBA, diverse developmental abnormalities are also noted.

Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes--a new syndrome?

A new megathrombocytopenic syndrome with giant platelets in peripheral blood and severe thrombocytopenia was diagnosed in a 4-month-old boy. His clinical course included repeated hemorrhagic incidents leading to death at age 37 months. Bone marrow ultrastructural analysis revealed numerous dystrophic megakaryocytes with giant membrane complexes.

Lutheran blood group glycoprotein and its newly characterized mouse homologue specifically bind alpha5 chain-containing human laminin with high affinity.

Lutheran blood group glycoproteins (Lu gps) are receptors for the extracellular matrix protein, laminin. Studies suggest that Lu gps may contribute to vaso-occlusion in sickle cell disease and it has recently been shown that sickle cells adhere to laminin isoforms containing the alpha5 chain (laminin 10/11). Laminin alpha5 is present in the subendothelium and is also a constituent of bone marrow sinusoids, suggesting a role for the Lu/laminin interaction in erythropoiesis.

Diamond-Blackfan anemia.

Diamond Blackfan anemia is a rare congenital hypoplastic anemia that usually presents early in infancy. Congenital anomalies, in particular of the head and upper limbs, are present in about 25% of reported patients. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia.

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologie und Hämatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI).

Diamond-Blackfan anemia (DBA) is a constitutional disease characterized by a specific maturation defect in cells of erythroid lineage. We have assembled a registry of 229 DBA patients, which includes 151 patients from France, 70 from Germany, and eight from other countries. Presence of malformations was significantly and independently associated with familial history of DBA, short stature at presentation (before any steroid therapy), and absence of hypotrophy at birth.

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

Mutations of the ribosomal protein S19 (RPS19) gene were recently identified in 10 patients with Diamond Blackfan anemia (DBA). To determine the prevalence of mutations in this gene in DBA and to begin to define the molecular basis for the observed variable clinical phenotype of this disorder, the genomic sequence of the 6 exons and the 5' untranslated region of the RPS19 gene was directly assessed in DBA index cases from 172 new families. Mutations affecting the coding sequence of RPS19 or splice sites were found in 34 cases (19.

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation.

High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP).

Phenotypic characterization of Diamond Blackfan Anemia (DBA) patients and their relatives was performed in 54 families. Complete blood count, fetal hemoglobin level, erythrocyte i antigen expression, and erythrocyte adenosine deaminase (eADA) activities were quantitated in patients and relatives. eADA was elevated in 28 of 34 transfusion-independent DBA patients, whereas persistence of erythrocyte i antigen was noticed in only 10 of 20 DBA patients.

Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.

Diamond-Blackfan anemia (DBA) is a rare pure red-cell hypoplasia of unknown etiology and pathogenesis. A major DBA locus has previously been localized to chromosome 19q13.2.

Current concepts and issues in Diamond-Blackfan anemia.

Diamond-Blackfan anemia, although rare, has been the focus of much attention with respect to both its clinical features and the characterization of the in vitro erythroid defect. Despite this, its pathophysiology is still unclear, and the treatment of steroid-refractory patients is still unsatisfactory. The recent chromosomal localization of a gene for familial Diamond-Blackfan anemia represents an important step forward toward the elucidation of this disorder.

Body composition determined with MR in patients with Duchenne muscular dystrophy, spinal muscular atrophy, and normal subjects.

Magnetic resonance imaging was used to determine total fat mass of patients with neuromuscular disorders, accounting for intramuscular fat. Nineteen boys aged 9 to 12 (eight with Duchenne muscular dystrophy, three with type II spinal muscular atrophy and eight control subjects) underwent whole-body magnetic resonance imaging examination and anthropometric measurements. Whole-body fat mass was deduced from automated analysis of images normalized by a reference signal.

Correlation of flexion contractures with upper extremity function and pain for spinal muscular atrophy and congenital myopathy patients.

To ascertain the patients' perception of the consequences of elbow flexion contractures and better understand the circumstances at their inception, we surveyed 405 spinal muscular atrophy and congenital myopathy patients. Diagrams of various elbow angles and questions concerning the effect of elbow contractures on daily activities were part of the survey. Of 108 completed responses, effectively a 24% response rate, 49 reported elbow flexion contractures.

Swallowing problems in neuromuscular disorders.

Feeding problems in patients with neuromuscular diseases are frequently underestimated and poorly analyzed. To gain a better understanding of the most common complaints, we surveyed 451 patients and received 409 responses representing seven disorders. Difficulties in the pre-oral phase of swallowing were encountered primarily in Duchenne muscular dystrophy (DMD), limb-girdle muscular dystrophy (LGMD), facio-scapulo-humoral muscular dystrophy (FSHMD), and spinal muscular atrophy (SMA).