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JOURNAL ARTICLE
J H Wang, Q Xu, H F Duan, L Wang, B Zhou, L L Zhang, X Wang, L J Zhou, X M Liu, L Wang
Objective: To investigate the features and influencing factors of language in children with various types of speech disorders. Methods: A case-control study was carried out, 262 children with speech disorder had been diagnosed at the language-speech clinic of the Center of Children's Healthcare, Children's Hospital, Capital Institute of Pediatrics from January 2021 to November 2023, the children with speech sound disorder as the speech sound disorder group, the children with developmental stuttering as the stuttering group...
April 16, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
#2
JOURNAL ARTICLE
Jennifer Cervantes, Jenna Wallace, Annie Kennelly Helms, Elizabeth A Diekroger, Jason Fogler
Layla is a 6.7-year-old girl diagnosed with attention-deficit/hyperactivity disorder (ADHD)-predominantly hyperactive/impulsive type-delayed adaptive skills, enuresis, unspecified malnutrition, and feeding difficulties. She presented to developmental-behavioral pediatrics (DBP) in January 2022 due to caregiver concerns for autism spectrum disorder (ASD).Layla lives in a polyamorous family with her biological mother and father, mother's partner whom Layla refers to as her uncle, and her 2 half-siblings. There is a maternal history of special education services, schizoaffective disorder, bipolar disorder, multiple sclerosis, Wolff-Parkinson-White syndrome, and ADHD...
March 2024: Journal of Developmental and Behavioral Pediatrics: JDBP
#3
JOURNAL ARTICLE
Satoko Goto, Tomoko Nishimura, Akemi Okumura, Taeko Harada, Mohammad Shafiur Rahman, Toshiki Iwabuchi, Motofumi Sumiya, Atsushi Senju, Kenji J Tsuchiya
OBJECTIVES: Motor planning is the cognitive process of planning necessary steps for achieving a purposeful movement and is specifically reflected through object manipulation. This study aimed to investigate whether fine motor skills, a surrogate of the motor planning ability of object manipulation, in early childhood are associated with later social skills, in a general-population birth cohort. METHODS: A total of 913 children, participating in the Hamamatsu Birth Cohort for Mothers and Children, were enrolled...
March 2024: Journal of Developmental and Behavioral Pediatrics: JDBP
#4
JOURNAL ARTICLE
Zeinab M Monir, Ebtissam M Salah El-Din, Wafaa A Kandeel, Sara F Sallam, Eman Elsheikh, Mones M Abushady, Fawzia Hasseb Allah, Sawsan Tawfik, Dina Abu Zeid
BACKGROUND: Child development is shaped throughout the first years of life through the interaction of genetics and the environment. Bayley-III is valuably used to determine early developmental delay (DD). The aim of this study was to detect the differences in performance of a sample of apparently healthy Egyptian infants and toddlers on the Bayley-III scales in relation to their age and gender. METHODS: This was a cross-sectional study. Bayley scales were applied to 270 of the 300 recruited children following the inclusion criteria; to avoid potential risk factors affecting development...
April 14, 2024: Italian Journal of Pediatrics
#5
JOURNAL ARTICLE
Nicole M McDonald, Sydney Jacobs, Carly Hyde, Connie Kasari, Shafali S Jeste
BACKGROUND: The TAND (Tuberous Sclerosis Complex [TSC]-Associated Neuropsychiatric Disorders) Checklist was developed as a clinical screener for neurodevelopmental disorders in TSC. Most studies have described patterns in older children and adults. This study sought to better understand behavioral concerns as measured by the TAND Checklist in young children with TSC. METHODS: We examined patterns of caregiver responses to the TAND Checklist in 90 toddlers with TSC (12 to 23 months n = 60; 24 to 36 months n = 30) through data collected during baseline visits across two TSC early intervention studies...
March 22, 2024: Pediatric Neurology
#6
JOURNAL ARTICLE
Shelby R Sferra, Annalise B Penikis, Matthew Guo, Ahmet A Baschat, Peter J Mogayzel, Vera Joanna Burton, Shaun M Kunisaki
BACKGROUND: We compared early neurodevelopmental morbidity in young children with severe CDH who underwent FETO to those without fetal therapy. METHODS: We conducted a prospective study of severe CDH patients undergoing FETO (n = 18) at a single North American center from 2015 to 2021 (NCT02710968). Outpatient survivors (n = 12) were evaluated by a multidisciplinary team and compared to expectantly managed CDH patients. Neurodevelopmental outcomes were assessed using the Capute Scales [Clinical Linguistic and Auditory Milestone Scales (CLAMS) and Cognitive Adaptive Test (CAT)], with a developmental quotient (DQ) < 85 indicative of at-risk for delay...
March 20, 2024: Journal of Pediatric Surgery
#7
JOURNAL ARTICLE
Erika Obikane, Hayato Yamana, Sachiko Ono, Hideo Yasunaga, Norito Kawakami
PURPOSE: Perinatal mood disorders affect both parents, impacting their children negatively. Little is known on the association between parental perinatal mood disorders and pediatric outcomes in Japan considering relevant covariates. Our objective was to investigate the association between paternal and maternal perinatal mood disorders and adverse physical and psychological child outcomes by the age of 36 months, adjusting for covariates such as the child's sex, age of parent at child's birth, perinatal mood disorders of the other parent, and perinatal antidepressant use...
April 9, 2024: Archives of Women's Mental Health
#8
JOURNAL ARTICLE
Anne Cc Lee, Sara Cherkerzian, Fahmida Tofail, Lian V Folger, Salahuddin Ahmed, Sayedur Rahman, Nabid H Chowdhury, Rasheda Khanam, Ingrid Olson, Emily Oken, Raina Fichorova, Charles A Nelson, Abdullah H Baqui, Terrie Inder
BACKGROUND: There are limited data on the impact of perinatal inflammation on child neurodevelopment in low-middle income countries and among growth-restricted infants. METHODS: Population-based, prospective birth cohort study of 288 infants from July 2016-March 2017 in Sylhet, Bangladesh. Umbilical cord blood was analyzed for interleukin(IL)-1α, IL-1β, IL-6, IL-8, and C-reactive protein(CRP). Child neurodevelopment was assessed at 24 months with Bayley-III Scales of Infant Development...
April 8, 2024: Pediatric Research
#9
Caichuan Wei, Haiju Zhang, Miaoying Fu, Jingping Ye, Baozhen Yao
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly, seizures, developmental delay and language regression, caused by a CSPP1 gene variant and examines the contributing variables. This paper advances the understanding of JS by summarizing the literature and offering detection patterns for practitioners with clinical suspicions of JS...
2024: Frontiers in Pediatrics
#10
JOURNAL ARTICLE
Tegan Howell, Valerie Sung, Libby Smith, Shani Dettman
BACKGROUND: Deaf and hard of hearing (DHH) children may experience communication delays, irrespective of early intervention and technology. Australian Sign Language (Auslan) is one approach in early intervention to address language delays. Current prevalence of Auslan use among Australian families with DHH children is unknown. AIMS: The first aim was to determine the proportion of families enrolled in an Australian statewide hearing loss databank who use Auslan with their DHH child...
March 29, 2024: International Journal of Pediatric Otorhinolaryngology
#11
JOURNAL ARTICLE
Carmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, Mónica Centeno-Pla, Jaime Sánchez-Pozo, Irene Lazaro-Rodriguez, Juan F Quesada-Espinosa, Ana Arteche-Lopez, Jonathan Olival, Marta Pacio-Miguez, María Palomares-Bralo, Fernando Santos-Simarro, Ramón Cancho-Candela, María Vázquez-López, Veronica Seidel, Antonio F Martinez-Monseny, Didac Casas-Alba, Daniel Grinberg, Susanna Balcells, Mercedes Serrano, Raquel Rabionet, Miguel A Martin, Roser Urreizti
BACKGROUND: TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations. METHODS: We present a detailed description of 11 new TRAF7-related CAFDADD cases, featuring eight distinct variants, including a novel one. RESULTS: Phenotypic analysis and a comprehensive review of the 58 previously reported cases outline consistent clinical presentations, emphasizing dysmorphic features, developmental delay, endocrine manifestations, and cardiac defects...
March 14, 2024: Pediatric Neurology
#12
JOURNAL ARTICLE
Hye Jin Kim, Minhye Kim, Seoyun Jang, Jae So Cho, Soo Yeon Kim, Anna Cho, Hunmin Kim, Byung Chan Lim, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, WooJoong Kim
The clinical and genetic characteristics of SYNGAP1 mutations in Korean pediatric patients are not well understood. We retrospectively analyzed 13 individuals with SYNGAP1 mutations from a longitudinal aspect. Clinical data, genetic profiles, and electroencephalography (EEG) patterns were examined. Genotypic analyses included gene panels and whole-exome sequencing. All patients exhibited global developmental delay from early infancy, with motor development eventually reaching independent ambulation by 3 years of age...
April 2, 2024: American Journal of Medical Genetics. Part A
#13
Marie-Louis Wronski, Ralf Kuja-Halkola, Elin Hedlund, Miriam I Martini, Paul Lichtenstein, Sebastian Lundström, Henrik Larsson, Mark J Taylor, Nadia Micali, Cynthia M Bulik, Lisa Dinkler
BACKGROUND: Avoidant restrictive food intake disorder (ARFID) is a feeding and eating disorder, characterized by limited variety and/or quantity of food intake impacting physical health and psychosocial functioning. Children with ARFID often present with a range of psychiatric and somatic symptoms, and therefore consult various pediatric subspecialties; large-scale studies mapping comorbidities are however lacking. To characterize health care needs of people with ARFID, we systematically investigated ARFID-related mental and somatic conditions in 616 children with ARFID and >30,000 children without ARFID...
March 15, 2024: medRxiv
#14
JOURNAL ARTICLE
Rebecca Netson, Andriane Schmiedel Fucks, Andressa Schmiedel Sanches Santos, Lucas Ernesto Pavoski Poloni, Nilson Noboru Nacano, Elielton Fucks, Katarina Radi, William E Strong, Alice Aparecida Carnaval, María Russo, Rohan Venkatesh, Andrey Vyshedskiy
This study compares two parent reports, the Mental Synthesis Evaluation Checklist (MSEC) and the Autism Treatment Evaluation Checklist (ATEC), with the Childhood Autism Rating Scale (CARS). The ATEC consists of four subscales, as follows: (1) expressive language, (2) sociability, (3) sensory awareness, and (4) health. The MSEC is complementary to the ATEC in measuring complex language comprehension. The parents of 143 autistic children, from 2 to 22 years of age (mean 6.7 ± 5.1 years), completed the MSEC and the ATEC questionnaires and a clinician assessed their CARS score...
March 11, 2024: Pediatric Reports
#15
JOURNAL ARTICLE
Linda Cupples, Teresa Y C Ching, Sanna Hou
INTRODUCTION: Children with early-identified unilateral hearing loss (UHL) might be at risk for delays in early speech and language, functional communication, psychosocial skills, and quality of life (QOL). However, a paucity of relevant research prohibits strong conclusions. This study aimed to provide new evidence relevant to this issue. METHODS: Participants were 34 children, ages 9;0 to 12;7 (years;months), who were identified with UHL via newborn hearing screening...
2024: Frontiers in Pediatrics
#16
JOURNAL ARTICLE
Marie-Andrée Binet, Mélanie Couture, Jonathan R Chevrier, Linda S Pagani, Gabrielle Garon-Carrier, Caroline Fitzpatrick
OBJECTIVE: The aim of this study was to assess the developmental risks associated with total screen time, and specifically newer mobile devices, in the context of the pandemic. METHODS: This study uses parent-reported data from a prospective cohort of Canadian preschool-age children. The exposure variable is child daily screen time measured at the age of 3.5 years categorized as light (<1 hr/d), moderate (1-4 hr/d), or intensive (>4 hr/d) use (N = 315). Time spent on mobile devices was considered separately as a continuous variable...
March 20, 2024: Journal of Developmental and Behavioral Pediatrics: JDBP
#17
JOURNAL ARTICLE
Stina Lou, Amalie Hahn Jensen, Ida Vogel, Birgitta Trolle, Morten Krog Herlin
STUDY OBJECTIVE: The diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is often a lengthy process that typically occurs during late adolescence. To support optimized and patient-centered care, this study aimed to investigate how women with MRKH syndrome experience the diagnostic process. METHODS: From January 2021 to March 2021, we conducted in-depth interviews with 18 Danish women (≥25 years) diagnosed with MRKH syndrome. The interviews lasted a median of 92 minutes (range: 67-117)...
March 15, 2024: Journal of Pediatric and Adolescent Gynecology
#18
JOURNAL ARTICLE
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva
INTRODUCTION: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants , with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional decline as early as possible in an attempt to improve quality of life and survival. This study describes the clinical characteristics as well as the response to treatment with cerliponase alfa. MATERIALS AND METHODS: A retrospective study was conducted in five Latin-American countries, using clinical records from patients with CLN2...
March 2024: Molecular Genetics and Metabolism Reports
#19
JOURNAL ARTICLE
Krithi Rao, Prajith Carthik, Aleena Varghese, Divya Seth, Mayur Bhat
Hearing loss is a common manifestation of Hunter's syndrome, with reported rates ranging from 67.3 to 94%. The aim is to highlight the audiological profile and pathophysiology of mixed hearing loss in individuals with hunter's syndrome. A 7.6-year-old male child was brought to the department of audiology with a complaint of not responding to name call and regression in the speech and language skills. Detailed audiological showed severe to profound mixed hearing loss. REELS and 3DLAT results showed RLA to be 9 to 10 months and ELA to be 6 to 7 months...
February 2024: Indian Journal of Otolaryngology and Head and Neck Surgery
#20
Camryn Daidone, Sheyenne Carper
We present a case of a three-year-old African American male, born at term, who initially presented with bronchiolitis at six months and has since experienced recurrent episodes of respiratory distress and hospitalizations. The patient also has severe eczema, developmental delays, and recurrent viral illnesses. Despite thorough evaluations from various specialists, such as pulmonology, allergy, and gastroenterology, the underlying cause remained elusive. The differential diagnosis for this case is as follows: severe persistent asthma with a possible link to genetic mutations such as CDHR3, hyper-IgE syndrome, atypical presentation of Wiskott-Aldrich syndrome, and severe gastroesophageal reflux disease (GERD) with aspiration pneumonitis...
January 2024: Curēus
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