Developmental pediatrics

Neonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether the presence and the severity of early clinical signs have an effect on the development of motor milestones. Infants identified through newborn screening were prospectively assessed using a structured neonatal neurological examination and an additional module developed for the assessment of floppy infants. As part of the follow-up, all infants were assessed using the HINE-2 to establish developmental milestones...

Given diverse symptom expression and high rates of comorbid conditions, the present study explored underlying commonalities among OCD-affected children and adolescents to better conceptualize disorder presentation and associated features. Data from 830 OCD-affected participants presenting to OCD specialty centers was aggregated. Dependent mixture modeling was used to examine latent clusters based on their age- and gender adjusted symptom severity (as measured by the Children's Yale-Brown Obsessive-Compulsive Scale; CY-BOCS), symptom type (as measured by factor scores calculated from the CY-BOCS symptom checklist), and comorbid diagnoses (as assessed via diagnostic interviews)...

How Does the Kaufman Assessment Battery for Children-II Stand the Test of Clinical Practice? Findings in 7- To 12-Year-Old Children Reliability and validity of the KABC-II were investigated in 646 children aged 7 to 12 years who had been assessed in four social pediatric centers and one pediatric clinic in Germany due to developmental, behavioral, or emotional disorders.The reliability of the global scales Fluid-Crystallized-Index (FCI) and Mental Processing Index (MPI) proved to be very high in all age groups, with values ≥ ...

BACKGROUND: The gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epilepsy. Analysis of the clinical features and genetics of DEE45 may be helpful in complementing genotype-phenotype studies. CASE PRESENTATION: We collected peripheral blood samples from the affected children and parents and extracted genomic DNA...

BACKGROUND: The long-term radiological outcomes after the treatment of neonatal hip instability (NHI) in developmental dysplasia of the hip are unclear. Therefore, the prevalence of acetabular dysplasia at a mean age of 18 years after treatment was investigated. The relationship between acetabular dysplasia and hip discomfort has also been poorly established. Therefore, the differences in pain, hip-related quality of life (QOL), and hip impingement tests in hips with and without acetabular dysplasia were assessed...

This retrospective cohort study included 77 mother-infant dyads that delivered term pregnancies at a single tertiary care institution. The primary objective was to investigate whether maternal dose of opioid maintenance therapy during pregnancy affects infant outcomes. All infants had prenatal exposure to opioid maintenance therapies. Maternal dose was converted into morphine milligram equivalents (MMEs) and stratified into high- (MME >1000 mg) and low-dose groups (MME ≤1000 mg). Associations between infant outcomes and MME dosage were examined using Wilcoxon rank-sum and Fisher's Exact tests...

BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare genetic disease characterized by early-onset nephrotic syndrome and microcephaly with central nervous system abnormalities. Pathogenic variants in genes encoding kinase, endopeptidase, and other proteins of small size (KEOPS) complex subunits cause GAMOS. The subunit TPRKB (TP53RK binding protein) has been reported in only two patients with GAMOS with homozygous missense variants. CLINICAL REPORT: Herein, we described a three-year-old male with GAMOS...

Pediatric pulmonology fellowship training programs are required by the Accreditation Council for Graduate Medical Education to report Pediatric Subspecialty Milestones biannually to track fellow progress. However, several issues, such as lack of subspecialty-specific context and ambiguous language, have raised concerns about their validity and applicability to use for fellow assessment and curriculum development. In this Perspective, we briefly share the process of the Pediatric Pulmonology Milestones 2.0 Work Group in creating new specialty-specific Milestones and tailoring information on the Harmonized Milestones to pediatric pulmonologists, with the goal of improving the Milestones' utility for stakeholders, including pulmonology fellows, faculty, program directors, and accrediting bodies...

BACKGROUND: Neurodevelopmental trajectories of preterm children may have changed due to changes in care and in society. We aimed to compare neurodevelopmental trajectories in early and moderately late preterm children, measured using the Developmental (D)-score, in two cohorts born 15 years apart. METHODS: We included early preterm and moderately late preterm children from two Dutch cohorts (LOLLIPOP, 2002-2003 and ePREM, 2016-2017). ePREM counterparts were matched to LOLLIPOP participants by gestational age and sex...

AIM: The aim of this study was to describe parental concerns about child health and behaviour and their sociodemographic predictors in 3-year-olds, in relation to the national guidelines of well-baby clinics. METHODS: The study included parents of 33 526 children in Stockholm who had completed a questionnaire prior to a routine visit to a well-baby clinic at age 3 years. Multivariate regression was used to analyse predictors for concerns. RESULTS: Child behaviour problems, defined as defiance and problem with adherence to daily routines, were the most common parental concerns (36...

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...

Objective: To understand the current status of pubertal sexual characteristics development of girls aged 6-18 years in Tongzhou District of Beijing and to compare the differences in sexual characteristics development among girls characterized as thin, normal, overweight, and obese. Methods: A cross-sectional survey was conducted among 2 844 girls aged 6-18 years in Tongzhou District of Beijing from September 2022 to July 2023. The developmental stages of breast and pubic hair were assessed on site, and menarche status was inquired...

BACKGROUND: The Modified Checklist for Autism in Toddlers (M-CHAT) is a common pediatric screening tool with mixed accuracy findings. Prior evidence supports M-CHAT screening for developmental concerns, especially in toddlers born preterm. This study examined M-CHAT accuracy in a large, nationwide sample. METHODS: 3393 participants from the Environmental influences on Child Health Outcomes (ECHO) program were included. Harmonized M-CHAT (M-CHAT-H) results were compared with parent-reported autism diagnosis and autism-related characteristics to assess accuracy for term and preterm children, together and separately...

Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder affecting 1 in 36 children in the United States. Given the rising prevalence and significant economic and social costs associated with ASD, it is critical that continued efforts be made towards better understanding the underlying etiology as well as management of the condition and its commonly associated comorbidities. It has been estimated that upwards of 70% of children with ASD have a positive history of gastrointestinal (GI) symptoms...

Youth and young adults (YYA) with intellectual and developmental disabilities (IDD) have high rates of co-occurring mental health (MH) conditions. The time during transition from pediatric to adult health and mental health care can be a very challenging, with risk of loss of services leading to poor outcomes. This study aimed to explore barriers to transition from pediatric to adult health and mental health care and services for individuals with IDD and co-occurring MH conditions, by eliciting the view of stakeholders, including disability advocates...

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...

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...

Multiple treatment options exist for children with epilepsy, including surgery, dietary therapies, neurostimulation, and antiseizure medications (ASMs). ASMs are the first line of therapy, and more than 30 ASMs have U.S. Food and Drug Administration (FDA) approval for the treatment of various epilepsy and seizure types in children. Given the extensive FDA approval of ASMs in children, it is crucial to consider how the physiological and developmental changes throughout childhood may impact drug disposition. Various sources of pharmacokinetic (PK) variability from different extrinsic and intrinsic factors such as patients' size, age, drug-drug interactions, and drug formulation could result in suboptimal dosing of ASMs...

The most severe form of spastic cerebral palsy (CP), which affects the arms and legs and often the face, is known as spastic quadriplegia. In addition to other developmental disabilities such as intellectual disability and seizures, it can cause difficulty in walking. Children with CP often have seizures as a result of brain injury, and spastic quadriplegic CP is typically associated with global developmental delay. For the purpose of addressing the unique motor and functional challenges associated with spastic quadriplegia, neurophysiotherapy is essential...

Appendicitis in children < 5 years old is uncommon and even less common in children < 1 year old. Symptoms of appendicitis can be non-specific and mimic other common pediatric diseases, causing delays in diagnosis. Without a timely diagnosis, young children with appendicitis are at risk of developing worsening disease, intra-abdominal abscess, perforation, and bacteremia.  We submit a case of a nine-month-old male infant presenting with fever, vomiting, and irritability seen the day prior and treated for otitis media, who was ultimately diagnosed with appendicitis with concomitant viral infection (respiratory syncytial virus and human rhinovirus/enterovirus) and treated with intravenous antibiotics and laparoscopic appendectomy...