Background: While most children display a normal development, some children experience developmental delays compared to age specific development milestones assessed during school entry examination. Data exist on prevalence of delays in single areas, but there is lack of knowledge regarding the clustering patterns of developmental delays and their determinants.
Methods: During the observation period 1997-2008, 12 399 preschool children (5-7 years of age) in one district of Bavaria, Germany, were assessed in twelve schooling-relevant development areas. The co-occurrence of developmental delays was studied by means of Pearson's correlation. Subsequently, a two-step cluster algorithm was applied to identify patterns of developmental delays, and multinomial logistic regression was conducted to identify variables associated with the specific patterns.
Results: Fourteen percent of preschool children displayed developmental delays in one and 19% in two or more of the studied areas. Among those with at least two developmental delays, most common was the combination of delays in "fine motor skills" + "grapho-motor coordination" (in 9.1% of all children), followed by "memory/concentration" + "endurance" (5.8%) and "abstraction" + "visual perception" (2.1%). In the cluster analysis, five distinct patterns of delays were identified, which displayed different associations with male gender and younger age.
Conclusions: While developmental delays can affect single areas, clustering of multiple developmental delays is common. Such clustering should be taken into account when developing diagnostic tests, in pediatric practice and considering interventions to reduce delays.
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http://dx.doi.org/10.1186/1471-2431-14-18 | DOI Listing |
Cureus
December 2024
Pediatrics, Unidade Local de Saúde do Algarve-Hospital de Faro, Faro, PRT.
A female adolescent with no relevant past history was admitted to the Pediatric Emergency Department with two episodes of seizures without trauma, fever, or other symptoms. Head-MRI revealed bilateral subependymal nodular irregularities lining the lateral ventricles, with similar signal evolution to grey matter, confirming the diagnosis of periventricular nodular heterotopias (PVNH). Genetic testing revealed a Filamin A ( variant; family studies were negative.
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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.
View Article and Find Full Text PDFNeuropediatrics
January 2025
Department of Inborn Errors of Metabolism, Ludwig-Maximilians-University Munich, University Hospital, Munich, Germany.
Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the TPP1 gene, encoding lysosomal tripeptidyl peptidase 1 (TPP1). The classical late-infantile phenotype has an age of onset between 2 and 4 years and is characterized by psychomotor regression, myoclonus, ataxia, blindness, and shortened life expectancy. Vision loss occurs due to retinal degeneration, usually when severe neurological symptoms are already evident.
View Article and Find Full Text PDFNat Commun
January 2025
Division of Developmental Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Malnutrition affects over 30 million children annually and has profound immediate and enduring repercussions. Survivors often suffer lasting neurocognitive consequences that impact academic performance and socioeconomic outcomes. Mechanistic understanding of the emergence of these consequences is poorly understood.
View Article and Find Full Text PDFBMC Med Genomics
January 2025
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and metabolic manifestations. We report a three-month-old Moroccan female patient presenting with doll-like facies, hepatomegaly, dysmorphic features, and developmental delays.
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