Universal newborn hearing screening is becoming the standard of care in the United States. However, there has been some controversy around this pediatric preventive health care practice. In 2001, the US Preventative Services Task Force (USPSTF), the leading independent panel of experts on prevention and primary care in the United States, reviewed the scientific literature and found inconclusive evidence to recommend for or against universal newborn hearing screening. As a result of this lack of recommendation, some pediatric providers were not screening the hearing of all newborn infants. The USPSTF released an update in July 2008 concluding there is scientific evidence to recommend newborn hearing screening for all infants. Universal newborn hearing screening is the first step in the national Early Hearing Detection and Intervention (EHDI) program. EHDI includes not only universal newborn hearing screening but also diagnostic evaluation for any infant failing the initial hearing screen and intervention services for any infant diagnosed with hearing loss. During the prenatal and postnatal periods, obstetric care providers can play a vital role in the EHDI process through education, screening, referral, and assistance with follow-up. Through these services, clinicians can work with parents and pediatric care providers to help newborns and infants develop communication and language skills that will last a lifetime.
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http://dx.doi.org/10.1016/j.jmwh.2008.07.019 | DOI Listing |
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Neurology, the Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, Hunan 410007, China.
Objective: To explore the clinical manifestations and genetic characteristics of a child with Leukoencephalopathy with ataxia (LKPAT) caused by a CLCN2 gene variant.
Methods: A retrospective analysis was conducted on the clinical data of a child admitted to Hunan Children's Hospital in June 2024 due to "intermittent convulsions for 13 days". Peripheral blood samples were collected from the child and his parents for whole exome sequencing, followed by Sanger sequencing validation and pathogenicity analysis of candidate variants.
Korean J Intern Med
January 2025
Division of Rheumatology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Background/aims: This study applied the 2022 American College of Rheumatology/European Alliance of Associations for Rheumatology (ACR/EULAR) criteria for antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) to patients with Behçet's disease (BD) to investigate the proportion and clinical implications of the reclassification to the overlap syndrome of BD and AAV (OS-BD-AAV).
Methods: We included 280 BD patients presenting with ANCA positivity but without medical conditions mimicking AAV at diagnosis. Demographic data, items from the 2014 revised International Criteria for BD and 2022 American College of Rheumatology and European Alliance of Associations for Rheumatology criteria for AAV, ANCA positivity, and laboratory results were recorded as clinical data at diagnosis.
Genes Genomics
January 2025
Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China.
Background: Hearing loss adversely impacts language development, acquisition, and the social and cognitive maturation of affected children. The hearing loss etiology mainly includes genetic factors and environmental factors, of which the former account for about 50-60%.
Objective: This study aimed to investigate the genetic basis of autosomal recessive non-syndromic hearing loss (NSHL) by identifying and characterizing novel variants in the CDH23 gene.
Front Pediatr
December 2024
Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education (MOE), Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
This case is the first reported patient with a gene mutation who primarily exhibits pronounced inattention as the main manifestation and is diagnosed with ADHD, requiring methylphenidate treatment. It is characterized by unique clinical features that set it apart from previously reported cases with mutations in the gene. Here, we report a female child with a diagnosis of ADHD and comorbidities.
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