CSTBnull mutation associated with microcephaly, early developmental delay, and severe dyskinesia

Neurology ◽  
2016 ◽  
Vol 86 (9) ◽  
pp. 877-878 ◽  
Author(s):  
Grazia M.S. Mancini ◽  
Rachel Schot ◽  
Marie Claire Y. de Wit ◽  
René F. de Coo ◽  
Rianne Oostenbrink ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Early Developmental ◽  
Severe Dyskinesia

scholarly journals Both Maternal and Pup Genotype Influence Ultrasonic Vocalizations and Early Developmental Milestones in Tsc2+/− Mice

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Emily A. Greene-Colozzi ◽  
Abbey R. Sadowski ◽  
Elyza Chadwick ◽  
Peter T. Tsai ◽  
Mustafa Sahin
Keyword(s):  
Developmental Delay ◽  
Autism Spectrum ◽  
Postnatal Period ◽  
Ultrasonic Vocalizations ◽  
Developmental Milestones ◽  
Autosomal Dominant Disorder ◽  
Autistic Behavior ◽  
Increased Risk ◽  
The Relationship ◽  
Early Developmental

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumor growth and neuropsychological symptoms such as autistic behavior, developmental delay, and epilepsy. While research has shed light on the biochemical and genetic etiology of TSC, the pathogenesis of the neurologic and behavioral manifestations remains poorly understood. TSC patients have a greatly increased risk of developmental delay and autism spectrum disorder, rendering the relationship between the two sets of symptoms an extremely pertinent issue for clinicians. We have expanded on previous observations of aberrant vocalizations in Tsc2+/− mice by testing vocalization output and developmental milestones systematically during the early postnatal period. In this study, we have demonstrated that Tsc2 haploinsufficiency in either dams or their pups results in a pattern of developmental delay in sensorimotor milestones and ultrasonic vocalizations.

scholarly journals Pola Pengasuhan Pada Anak Dengan Hambatan Perkembangan

2020 ◽  
Vol 48 (1) ◽  
Author(s):  
Sri Poedji Hastoety ◽  
Rika Rachmalina ◽  
Irlina Raswanti Irawan ◽  
Febriani Febriani
Keyword(s):  
Child Development ◽  
Early Detection ◽  
Developmental Delay ◽  
Parenting Style ◽  
Health Workers ◽  
Child Growth ◽  
Economic Factors ◽  
Individual Interview ◽  
Printed Media ◽  
Early Developmental

Abstract Parenting is a factor that is directly related to child development. This study aims to explore the parenting style among children with developmental delay. This qualitative study nested in a Child Growth and Development Cohort Study that was conducted in Bogor in October 2019. Six children aged 2 to 6 years with developmental delay were recruited in this study. Mother of these children were purposely selected as informants and participated in individual interview about parenting Style of Baurimnd. The mothers as the main caregiver of their children applied control and warmth parenting. The mothers did not know if their children suffered from developmental delay and they had never been informed about this problem by health workers. Economic factors were the reason why mother did not check up their child development. Family had an important role to prevent developmental delay of their children. Parents did not realize that their children had developmental delay, thus there was no specific parenting style applied to cope with this problem. Early detection and early developmental stimulation for children are necessary. It is important to develop indirect counselling media, both electronic and printed media, for mothers of children with developmental delay; hence they can perform early detection and early developmental stimulation by themselves. Keywords: developmental delay, parenting style Abstrak Pola asuh merupakan faktor yang terkait langsung dengan perkembangan anak. Penelitian ini bertujuan untuk mengeksplorasi pola asuh orang tua pada anak dengan hambatan perkembangan. Penelitian ini merupakan bagian dari Studi Kohor Tumbuh Kembang Anak yang dilaksanakan di Bogor pada bulan oktober 2019. Jumlah sampel 6 anak yang mengalami hambatan perkembangan berusia 2 hingga 6 tahun, informan adalah ibu dari anak yang mengalami hambatan perkembangan tersebut, yang dipilih secara purposive untuk diwawancara terkait informasi dimensi pola asuh Baumrind. Pengasuhan anak lebih banyak dilakukan oleh ibu dengan menerapkan pola asuh kontrol dan kehangatan. Ibu tidak tahu jika anak mereka mempunyai hambatan dalam perkembangannya dan belum pernah mendapatkan informasi tersebut dari tenaga kesehatan. Faktor ekonomi merupakan alasan ibu tidak melakukan pemeriksaan terhadap perkembangan anak. Keluarga berperan besar dalam mengatasi hambatan perkembangan anak. Orang tua tidak menyadari bahwa anaknya memiliki hambatan perkembangan sehingga tidak ada pola asuh spesifik yang diterapkan untuk menangani masalah tersebut. Kegiatan deteksi dini dan stimulasi perkembangan sejak dini perlu digiatkan, serta pentingnya mengembangkan media penyuluhan tidak langsung baik media elektronik maupun media cetak, bagi ibu yang memiliki anak dengan hambatan perkembangan agar bisa melakukan deteksi dini dan stimulasi terhadap gangguan tumbuh kembang anak secara mandiri. Kata kunci: Hambatan perkembangan, Pola asuh

scholarly journals An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Liisa E. Paavola ◽  
Anne M. Remes ◽  
Pirkko H. Sonninen ◽  
Vesa V. Kiviniemi ◽  
Tapio T. Korhonen ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Developmental Delay ◽  
Neurological Examination ◽  
Cognitive Skills ◽  
Developmental Profile ◽  
Salla Disease ◽  
Neuropsychological Investigation ◽  
Early Developmental ◽  
Free Sialic Acid ◽  
Homozygous Patient

Salla disease (SD) is a disorder caused by defective storage of free sialic acid and results from mutations in theSLC17A5gene. Early developmental delay of motor functions, and later cognitive skills, is typical. We describe a developmental profile of an unusual homozygous patient, who harboured the SallaFIN (p.R39C) mutation gene. The study involved neurological examination, neuropsychological investigation, and brain imaging. The neurocognitive findings were atypical in comparison with other patients with the SallaFIN mutation. Interestingly, there was no deterioration in the patient's neurological condition during adulthood. Her neurocognitive skills were remarkably higher than those of other patients with a conventional phenotype of SD. Our results suggest that the phenotype of SD is broad. Unidentified genetic or environmental variation might explain the unique SD type of this case.

scholarly journals Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1

2010 ◽  
pp. n/a-n/a ◽  
Author(s):  
Irini Manoli ◽  
Gretchen Golas ◽  
Wendy Westbroek ◽  
Thierry Vilboux ◽  
Thomas C. Markello ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chromosome 1 ◽  
Chediak Higashi Syndrome ◽  
Early Developmental

Middle Ear Infections Linked to Early Developmental Delay

2000 ◽  
Author(s):  
D. L. Johnson ◽  
◽  
P. R. Swank ◽  
M. J. Owen ◽  
C. D. Baldwin ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Middle Ear ◽  
Ear Infections ◽  
Early Developmental

Correlated Studies of Cellular Interactions Using TEM, Freeze Etching, and SEM

1974 ◽  
Vol 32 ◽  
pp. 320-321
Author(s):  
J. P. Revel
Keyword(s):  
Developmental Stages ◽  
Three Dimensional ◽  
Cell Movement ◽  
Cellular Interactions ◽  
Serial Sections ◽  
Cell Sheets ◽  
Freeze Etching ◽  
Early Developmental

Movement of individual cells or of cell sheets and complex patterns of folding play a prominent role in the early developmental stages of the embryo. Our understanding of these processes is based on three- dimensional reconstructions laboriously prepared from serial sections, and from autoradiographic and other studies. Many concepts have also evolved from extrapolation of investigations of cell movement carried out in vitro. The scanning electron microscope now allows us to examine some of these events in situ. It is possible to prepare dissections of embryos and even of tissues of adult animals which reveal existing relationships between various structures more readily than used to be possible vithout an SEM.

An Early Developmental Marker for Radial Glia in Rat Spinal Cord

1996 ◽  
Vol 54 ◽  
pp. 36-37
Author(s):  
V. Kriho ◽  
H.-Y. Yang ◽  
C.-M. Lue ◽  
N. Lieska ◽  
G. D. Pappas
Keyword(s):  
Spinal Cord ◽  
Intermediate Filament ◽  
Radial Glia ◽  
Rat Spinal Cord ◽  
Future Studies ◽  
Spinal Cord Development ◽  
Median Septum ◽  
Differentiation Marker ◽  
Early Developmental ◽  
Developing Rat

Radial glia have been classically defined as those early glial cells that radially span their thin processes from the ventricular to the pial surfaces in the developing central nervous system. These radial glia constitute a transient cell population, disappearing, for the most part, by the end of the period of neuronal migration. Traditionally, it has been difficult to definitively identify these cells because the principal criteria available were morphologic only.Using immunofluorescence microscopy, we have previously defined a phenotype for radial glia in rat spinal cord based upon the sequential expression of vimentin, glial fibrillary acidic protein and an intermediate filament-associated protein, IFAP-70/280kD. We report here the application of another intermediate filament-associated protein, IFAP-300kD, originally identified in BHK-21 cells, to the immunofluorescence study of radial glia in the developing rat spinal cord.Results showed that IFAP-300kD appeared very early in rat spinal cord development. In fact by embryonic day 13, IFAP-300kD immunoreactivity was already at its peak and was observed in most of the radial glia which span the spinal cord from the ventricular to the subpial surfaces (Fig. 1). Interestingly, from this time, IFAP-300kD immunoreactivity diminished rapidly in a dorsal to ventral manner, so that by embryonic day 16 it was detectable only in the maturing macroglial cells in the marginal zone of the spinal cord and the dorsal median septum (Fig. 2). By birth, the spinal cord was essentially immuno-negative for this IFAP. Thus, IFAP-300kD appears to be another differentiation marker available for future studies of gliogenesis, especially for the early stages of radial glia differentiation.

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