Comparison of Factors Contributing to Developmental Attainment of Children between 9 and 18 Months

Cheng, Shunyue; Maeda, Tadahiko; Yamagata, Zentaro; Tomiwa, Kiyotaka; Yamakawa, Noriko; Group, Japan Children's Study

doi:10.2188/jea.je20090177

Cited by 11 publications

(6 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…G‐banded chromosomes were normal. The Kinder Infant Developmental Scale [Cheng et al, 2010] showed mild developmental delay with the overall developmental quotient as 65 (physical/motor, 35; manipulation, 58; receptive language, 77; expressive language, 103; conceptual thinking, 77; social relationships with children, 68; social relationships with adults, 116; home training, 68; feeding, 42). He had orchiopexy and a surgical correction of an umbilical hernia at age 2 years and 7 months.…”

Section: Clinical Reportsmentioning

confidence: 99%

Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

Shimizu

Okamoto

Miyake

et al. 2011

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-clubfoot syndrome (ATCS; OMIM#601776) and a new type of Ehlers-Danlos syndrome (EDS) coined as EDS Kosho Type (EDSKT) [Miyake et al., 2010], as well as a subset of kyphoscoliosis type EDS without lysyl hydroxylase deficiency (EDS VIB) coined as musculocontractural EDS (MCEDS) [Malfait et al., 2010]. Lack of detailed clinical information from later childhood to adulthood in ATCS and lack of detailed clinical information from birth to early childhood in EDSKT and MCEDS have made it difficult to determine whether these disorders would be distinct clinical entities or a single clinical entity with variable expressions and with different presentations depending on the patients' ages at diagnosis. We present detailed clinical findings and courses of two additional unrelated patients, aged 2 years and 6 years, with EDSKT with a comprehensive review of 20 reported patients with D4ST1 deficiency, which supports the notion that these disorders constitute a clinically recognizable form of EDS. The disorder, preferably termed D4ST1-deficient EDS, is characterized by progressive multisystem fragility-related manifestations (joint dislocations and deformities, skin hyperextensibility, bruisability, and fragility; recurrent large subcutaneous hematomas, and other cardiac valvular, respiratory, gastrointestinal, and ophthalmological complications) resulting from impaired assembly of collagen fibrils, as well as various malformations (distinct craniofacial features, multiple congenital contractures, and congenital defects in cardiovascular, gastrointestinal, renal, ocular, and central nervous systems) resulting from inborn errors of development.

show abstract

Section: Clinical Reportsmentioning

confidence: 99%

Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

Shimizu

Okamoto

Miyake

et al. 2011

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…1a), respectively. He showed psychomotor delay, with a developmental quotient (DQ) of 57 on the Kinder Infant Development Scale (KIDS) [Cheng et al, 2010]. His craniofacial features included brachycephaly, strabismus, a short nose with anteverted nostrils, a short philtrum, macroglossia, a high palate, a bifid uvula, and a submucous cleft palate.…”

Section: Clinical Reportmentioning

confidence: 99%

Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature

Motobayashi

Nishimura-Tadaki

Inaba

et al. 2012

American J of Med Genetics Pt A

View full text Add to dashboard Cite

2q23.1 microdeletion syndrome is a recently characterized chromosomal aberration disorder uncovered through array comparative genomic hybridization (array CGH). Although the cardinal feature is intellectual disability (ID), neurodevelopmental features of the syndrome have not been systematically reviewed. We present a 5-year-old boy with severe psychomotor developmental delay/ID, progressive microcephaly with brain atrophy, growth retardation, and several external anomalies. He manifested intractable epilepsy, effectively treated with combined antiepileptic drug therapy including topiramate. Array CGH demonstrated a de novo interstitial deletion of approximately 1 Mb at 2q23.1-q23.2, involving four genes including MBD5. Nineteen patients have been reported to have the syndrome, including present patient. All patients whose data were available had ID, 17 patients (89%) had seizures, and microcephaly was evident in 9 of 18 patients (50%). Deletion sizes ranged from 200 kb to 5.5 Mb, comprising 1-15 genes. MBD5, the only gene deleted in all patients, is considered to be responsible for ID and epilepsy. Furthermore, the deletion junction was sequenced for the first time in a patient with the syndrome; and homology of three nucleotides, identified at the distal and proximal breakpoints, suggested that the deletion might have been mediated by recently-delineated genomic rearrangement mechanism Fork Stalling and Template Switching (FoSTeS)/microhomology-mediated break-induced replication (MMBIR).

show abstract

“…Only six studies [57][58][59]90,93,98], using respectively DASS, PSI-SF, and Rearing-Related Stress, had a cut-off to indicate threshold of high-level stress. No other studies made any statements regarding cut-off, beyond some stating that 'higher score indicates higher perception of parenting stress'.…”

Section: Plos Onementioning

confidence: 99%

Measurement instruments for parental stress in the postpartum period: A scoping review

et al. 2022

View full text Add to dashboard Cite

Background Parenting stress is a particular type of stress that is conceptualized as a negative psychological response to the numerous obligations associated with raising children. Despite a considerable increase in research on parenting stress, little attention has been given to the ways parenting stress are measured. Objectives This scoping review aimed to provide an overview of available instruments measuring parental stress and to describe their psychometric properties. Methods We conducted a scoping review in accordance with international guidelines for scoping reviews. The main search strategy was searches in seven electronic databases. Pairs of reviewers selected relevant studies based on predetermined inclusion and exclusion criteria. Studies had to report one or more psychometric properties of an instrument measuring stress in parents with children 0–12 months. For each included study, we collected information relevant to the review question, guided by the COnsensus based Standards for the selection of health status Measurement INstruments (COSMIN). Finally, we collated, summarized, and reported the findings descriptively. Results From 2164 unique record, 64 studies from 24 countries were included. They described 15 instruments, of which four were generic and eleven parental-specific self-administered instruments. Only two studies examined parental stress among fathers. Eleven of the studies were validation studies, but they only described seven of the 15 instruments. Internal consistency was the only information provided by 73.4% of the included studies. None of the instruments had information on all measurement properties as per the COSMIN criteria, and there was no information about measurement error, responsiveness, or interpretability for any of the 15 instruments. Discussion There are presently 15 instruments with some associated psychometric information being used to measure parental stress among parents with young children, but the amount of information on the instruments’ psychometric properties is slight. There is a need for further research.

show abstract

Comparison of Factors Contributing to Developmental Attainment of Children between 9 and 18 Months

Cited by 11 publications

References 27 publications

Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature

Measurement instruments for parental stress in the postpartum period: A scoping review

Contact Info

Product

Resources

About