Developmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skills.

Background/aim: Williams-Beuren syndrome (WBS) is a rare genetic disorder with delays in language and cognitive development, but, with increased awareness of clinical features and a reliable diagnostic test, WBS is becoming more widely recognized in childhood. Adaptive behavior skills and/or maladaptive behavior are important for the prognosis of individuals with WBS. The aim of this study was to investigate the clinical and developmental characteristics of patients with WBS and further increase awareness about it by evaluating the adaptive skills and maladaptive behaviors of the patients.

Shared Reading of the Families With the Children With Chronic Disease.

The aim of the study is to evaluate shared reading of families of children with chronic diseases. The mothers of children aged 2 to 6 years with chronic health problems who applied to the pediatric outpatient clinic between January and May 2022 were the study group, and the mothers of children with an acute health problem were the control group. The sociodemographic information form and "Child-Parent Shared Reading Activities Scale" were applied.

Nutritional rickets in Turkish and refugee children aged 0-2: an increasing problem despite vitamin D prophylaxis.

Background: Nutritional rickets (NR) is still a major problem and is exacerbated by an increasing influx of immigrants. In this study, Turkish and immigrant cases followed with the diagnosis of NR in our pediatric endocrinology clinic were retrospectively evaluated.

Methods: Detailed data of cases diagnosed with NR between 2013 and 2020 and followed for at least six months were reviewed.

Etiological, clinical, and laboratory evaluation of congenital hypothyroidism and determination of levothyroxine (LT4) dose at treatment interruption in differentiating permanent vs. transient patients.

Background: Congenital hypothyroidism (CH) is the most common cause of preventable but irreversible mental retardation in children, although the risk has been widely abolished by national neonatal screening programs. The aim of this study was to determine, (a) the cause of CH, (b) the etiological cause of persistent CH and (c) to investigate the role of laboratory and clinical data in predicting persistent and transient CH.

Methods: Patients diagnosed with CH, who started L-thyroxine treatment and were followed up for at least three years were included.

Effects of parent- and child-related behavioral feeding problems in early childhood on malnutrition.

Objective: Children's responses to food and their caregivers during normal developmental periods are known as feeding behavior. For the healthy development of these behaviors, parent and child relationships must also be healthy. Therefore, we aimed to investigate the effect of behavioral feeding problems on primary malnutrition (PM).

Comparison of developmental outcomes in children with permanent and transient congenital hypothyroidism.

Objectives: Congenital hypothyroidism (CH) is still one of the most common causes of preventable cognitive impairment in children, and its early detection and treatment prevent irreversible neurodevelopmental delay. Depending on the underlying cause, cases with CH may be transient or permanent. This study aimed to compare the developmental evaluation results of transient and permanent CH patients and to reveal any differences.

Chronic Disease Management of Children Followed with Type 1 Diabetes Mellitus.

Objective: With the diagnosis of chronic illness in children, a stressful period is likely to begin for both the affected child and their families. The aim of this study was to investigate the factors affecting chronic disease management by the parents of children diagnosed with type 1 diabetes mellitus (T1DM).

Methods: The sample consisted of 110 children, aged between 4-17 years and their mothers.

The Impact of COVID-19 Pandemic on Patient Admissions to the Developmental Pediatrics Unit: An Outpatient Clinic in Eastern Turkey.

Objective: The aim of this study was to analyze the impact of coronavirus disease 2019 pandemic on the number and diagnosis of patients admitted to the Developmental Pediatrics Unit. Materilas and Methods: We compared the number and the diagnosis of patients admitted to the Developmental Pediatrics Unit by using International Classification of Diseases and Related Health Problems 10th revision (ICD-10) codes of our institution's electronic health data before and after 18 months from March 16 2020, when coronavirus disease 2019 pandemic was declared in Turkey. Statistical analyses were performed by using International Business Machines Statistical Package for Social Sciences for windows version 22.

Effects of early physical therapy on motor development in children with Down syndrome.

Objective: The objective of the study was to compare the motor development of children with Down syndrome (DS) who received physical therapy (PT) and did not receive PT, and to show the effect of PT programs started before the age of one on movement development.

Methods: The study included aged between 6 and 42 months, 58 children with DS. Children with DS were divided into two groups as receiving PT and non-receiving PT.

Experience of mothers with Down syndrome children at the time of diagnosis.

Introduction: Down's syndrome (DS) is a common genetic disorder. The families of children with DS generally do not receive sufficient information at the time of the diagnosis. They are dissatisfied with the manner of healthcare professionals.

The relationship between motor performance and femoral cartilage thickness in children with Down syndrome.

Down syndrome (DS) is a genetic disorder associated with mental and motor developmental delays in childhood. The aim of this study was to investigate the relationship of the femoral cartilage thickness with motor performance in children with Down syndrome (DS). A total of 39 children with DS in the age range of 12-42 months were included in the study (female/male: 21/18; mean age: 23.

Effects of ultrasound-guided botulinum toxin type-A injections with a specific approach in spastic cerebral palsy.

The aim of this study was to detect effects of ultrasound-guided botulinum toxin type-A (US-guided BoNT-A) injections prepared according to lower extremity innervation zones on spasticity and motor function in 3-16 years children with diplegic and hemiplegic spastic cerebral palsy. This study included 25 patients between 3 and 16 years of age who admitted to our clinic in 2017, were being followed in our clinic with a diagnosis of cerebral palsy, had BoNT-A injections due to lower extremity spasticity. The US-guided BoNT-A injections were administered into the spastic muscles using a specific approach according to innervation zones of muscle.

Hypo- and hypervolemic edema in children with steroid sensitive nephrotic syndrome.

Background/aim: The mechanism of edema formation in nephrotic syndrome is still poorly understood. We aimed to evaluate the volume status in children with steroid-sensitive nephrotic syndrome (SSNS) and to emphasize the importance of echocardiography in demonstrating of volume changes.

Materials And Methods: Thirty-two SSNS patients and 30 healthy children were enrolled in this study.