Pediatric Feeding Disorder: Consensus Definition and Conceptual Framework.

Pediatric feeding disorders (PFDs) lack a universally accepted definition. Feeding disorders require comprehensive assessment and treatment of 4 closely related, complementary domains (medical, psychosocial, and feeding skill-based systems and associated nutritional complications). Previous diagnostic paradigms have, however, typically defined feeding disorders using the lens of a single professional discipline and fail to characterize associated functional limitations that are critical to plan appropriate interventions and improve quality of life. Using the framework of the World Health Organization International Classification of Functioning, Disability, and Health, a unifying diagnostic term is proposed: "Pediatric Feeding Disorder" (PFD), defined as impaired oral intake that is not age-appropriate, and is associated with medical, nutritional, feeding skill, and/or psychosocial dysfunction. By incorporating associated functional limitations, the proposed diagnostic criteria for PFD should enable practitioners and researchers to better characterize the needs of heterogeneous patient populations, facilitate inclusion of all relevant disciplines in treatment planning, and promote the use of common, precise, terminology necessary to advance clinical practice, research, and health-care policy.

Managing feeding problems and feeding disorders.

On the basis of strong research evidence, feeding problems and feeding disorders are common,especially in children who have developmental disabilities. (1) (3) On the basis of strong research evidence, a variety of prenatal, medical, environmental, behavioral, and parental factors contribute to childhood feeding disorders. (1) (3) On the basis of some research evidence plus consensus, many feeding problems are preventable or easily treated.On the basis of strong research evidence, left untreated, feeding disorders may result in complications, including aspiration pneumonitis,failure to thrive, and parent-child conflict. On the basis of some research evidence plus consensus,treatment of feeding disorders improves nutritional status, growth, feeding safety, and quality of life.

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum disorders (ASDs), hypotonia and schizophrenia. We performed a detailed clinical and molecular characterization of 24 patients who underwent clinical microarray analysis and had intragenic deletions of NRXN1. Seventeen of these deletions involved exons of NRXN1, whereas seven deleted intronic sequences only. The patients with exonic deletions manifested developmental delay/intellectual disability (93%), infantile hypotonia (59%) and ASDs (56%). Congenital malformations and dysmorphic features appeared infrequently and inconsistently among this population of patients with NRXN1 deletions. The more C-terminal deletions, including those affecting the ß isoform of neurexin 1, manifested increased head size and a high frequency of seizure disorder (88%) when compared with N-terminal deletions of NRXN1.