This article provides a brief overview of the changes from ICD-10 to ICD-11 regarding the classification of mental, behavioral, or neurodevelopmental disorders. These changes include a new chapter structure, new diagnostic categories, changes in diagnostic criteria, and steps towards dimensionality. Additionally, we review evaluative field studies of ICD-11, which provide preliminary evidence for higher reliability and clinical utility of ICD-11 compared with ICD-10. Despite the extensive revision process, changes from ICD-10 to ICD-11 were relatively modest in that both systems are categorical, classifying mental phenomena based on self-reported or clinically observable symptoms. Other recent approaches to psychiatric nosology and classification (eg, neurobiology-based or hierarchical) are discussed. To meet the needs of different user groups, we propose expanding the stepwise approach to diagnosis introduced for some diagnostic categories in ICD-11, which includes categorical and dimensional elements.
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Este artículo entrega una breve descripción de los cambios de la CIE-10 a la CIE-11 con respecto a la clasificación de los trastornos mentales, conductuales o trastornos del neurodesarrollo. Estos cambios incluyen una nueva estructura del capítulo, nuevas categorías diagnósticas, cambios en los criterios diagnósticos y pasos hacia un enfoque dimensional. Además, se revisan los estudios de campo de evaluación para la CIE-11, que proporcionan evidencia preliminar de una mayor confiabilidad y utilidad clínica de la CIE-11 en comparación con la CIE-10. A pesar del extenso proceso de revisión, los cambios de la CIE-10 a la CIE-11 fueron relativamente pocos en el sentido de que ambos sistemas son categoriales y clasifican los fenómenos mentales en base a síntomas auto-reportados o que sean clínicamente observables. Se discuten otros enfoques recientes de la nosología y de la clasificación psiquiátrica (por ejemplo, basados en la neurobiología o de acuerdo a jerarquías). Para satisfacer las necesidades de diferentes grupos de usuarios, se propone expandir el enfoque gradual del diagnóstico introducido para algunas categorías diagnósticas de la CIE-11, que incluye elementos categoriales y dimensionales.
Cet article propose un aperçu des évolutions entre la CIM-10 et la CIM-11 concernant la classification des troubles mentaux, comportementaux ou neurodéveloppementaux. Un nouveau chapitre, de nouvelles catégories diagnostiques, des critères diagnostiques modifiés et des étapes dimensionnelles ont été ajoutés. De plus, nous examinons les données préliminaires issues d’études de terrain d’évaluation de la CIM-11, en faveur d’une plus grande fiabilité et utilité de cette dernière comparée à la CIM-10. Les modifications de la CIM-10 vers la CIM-11 sont relativement modestes malgré une révision étendue, les deux systèmes restant catégoriels et les troubles mentaux étant classés d’après des symptômes auto-rapportés ou cliniquement observables. Nous analysons d’autres approches récentes de la nosologie et de la classification psychiatriques (selon la neurobiologie ou hiérarchiquement par exemple). Certaines catégories diagnostiques de la CIM-11 pourraient bénéficier selon nous de cette méthode progressive en incluant des éléments catégoriels et dimensionnels.

Transaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype-genotype correlation.
We performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D. In some patients, endocrine abnormalities have been found. To further evaluate these abnormalities, we performed biochemical investigations on blood of 14 patients.
Most patients (n = 22) had an early-onset presentation (prenatally or before 1 month of age); 12 patients had a late-onset presentation (3 months to 9 years). Main presenting symptoms were intrauterine growth restriction, dysmorphic facial features, congenital heart disease, anemia, thrombocytopenia, and hepato(spleno)megaly. An older sib of two affected patients was asymptomatic until the age of 9 years, and only after molecular diagnosis was hepatomegaly noted. In some patients, there was gonadal dysfunction with low levels of testosterone and secondary luteinizing hormone (LH) and follicle-stimulating hormone (FSH) abnormalities later in life. This overview provides information that can be helpful for managing patients and counseling families regarding prognosis. Diagnostic guidelines, possible genotype-phenotype correlations, treatment options, and pathophysiological disease mechanisms are proposed.

Along with the molecular and functional characterization of CNGA3, knowledge about diseases associated with CNGA3 mutations has made great progress. So far, CNGA3 mutations are not only one of the most common causes of achromatopsia and cone dystrophy or cone-rod dystrophy but also one of the most commonly mutated genes among various forms of retinopathy. Understanding the clinical characteristics of CNGA3-associated retinal diseases may help clinical practice of infants or children with related diseases. Recognizing the importance of CNGA3 in inherited retinal diseases may enhance related research in searching for functional restoration or repair of CNGA3 defects.

The World Health Organization (WHO) provided instructions for field trials with the completely revised psychosocial axis of the MAS (Multiaxial classification scheme in child and adolescent psychiatry). A description is given of the purpose, the stages and the procedures of the field trials, the participating centres and the samples. The results of the studies concerning applicability and reliability are given and discussed, as well as those of a quasi validity study, in a comparison of anxiety disorders and disruptive behaviour disorders. In general the applicability is very satisfactory, especially when the diagnostic guidelines are followed strictly. The preliminary results of the reliability studies are rather inconsistent. The difference in training apparently played a very important role. The quasi validity study yielded indications that there are not only differences in quantity but in particular in quality of the psychosocial situations, as outlined in the categories of the axis, of different psychiatric disorders.

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document we review the diagnostic features, differential diagnostic considerations and available diagnostic tools for the various CMD subtypes and provide a systematic guide to the use of these resources for achieving an accurate molecular diagnosis. An International Committee on the Standard of Care for Congenital Muscular Dystrophies composed of experts on various aspects relevant to the CMDs performed a review of the available literature as well as of the unpublished expertise represented by the members of the committee and their contacts. This process was refined by two rounds of online surveys and followed by a three-day meeting at which the conclusions were presented and further refined. The combined consensus summarized in this document allows the physician to recognize the presence of a CMD in a child with weakness based on history, clinical examination, muscle biopsy results, and imaging. It will be helpful in suspecting a specific CMD subtype in order to prioritize testing to arrive at a final genetic diagnosis.