Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance

2008 ◽  
Vol 146A (3) ◽  
pp. 354-360 ◽  
Author(s):  
Małgorzata J.M. Nowaczyk ◽  
Melissa T. Carter ◽  
Jie Xu ◽  
Marlene Huggins ◽  
Gordana Raca ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Developmental Delay ◽  
Growth Failure ◽  
Facial Appearance ◽  
Intrauterine Growth ◽  
Early Developmental

scholarly journals Prenatal intrauterine growth restriction and risk of retinopathy of prematurity

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Alison Chu ◽  
Yasmeen Dhindsa ◽  
Myung Shin Sim ◽  
Marie Altendahl ◽  
Irena Tsui
Keyword(s):  
Gestational Age ◽  
Retinopathy Of Prematurity ◽  
Intrauterine Growth Restriction ◽  
Growth Failure ◽  
Postnatal Growth ◽  
Growth Patterns ◽  
Growth Restriction ◽  
Intrauterine Growth ◽  
Prenatal Growth ◽  
Postnatal Growth Failure

Abstract Low birthweight and decreased postnatal weight gain are known predictors of worse retinopathy of prematurity (ROP) but the role of prenatal growth patterns in ROP remains inconclusive. To distinguish small for gestational age (SGA) from intrauterine growth restriction (IUGR) as independent predictors of ROP, we performed a retrospective cohort study of patients who received ROP screening examinations at a level IV neonatal intensive care unit over a 7-year period. Data on IUGR and SGA status, worst stage of and need for treatment for ROP, and postnatal growth was obtained. 343 infants were included for analysis (mean gestational age = 28.6 weeks and birth weight = 1138.2 g). IUGR infants were more likely to have a worse stage of ROP and treatment-requiring ROP (both p < 0.0001) compared to non-IUGR infants. IUGR infants were more likely to be older at worst stage of ROP (p < 0.0001) and to develop postnatal growth failure (p = 0.01) than non-IUGR infants. Independent of postnatal growth failure status, IUGR infants had a 4–5 × increased risk of needing ROP treatment (p < 0.001) compared to non-IUGR infants. SGA versus appropriate for gestational age infants did not demonstrate differences in retinopathy outcomes, age at worst ROP stage, or postnatal growth failure. These findings emphasize the importance of prenatal growth on ROP development.

scholarly journals Effect of Prolonged Discontinuation of L-Thyroxine Replacement in a Child with Congenital Hypothyroidism

2012 ◽  
Vol 2012 ◽  
pp. 1-5
Author(s):  
Rita Ann Kubicky ◽  
Evan Weiner ◽  
Bronwyn Carlson ◽  
Francesco De Luca
Keyword(s):  
Early Childhood ◽  
Developmental Delay ◽  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Growth Failure ◽  
Physical Growth ◽  
Neurological Development ◽  
Adherence To Treatment ◽  
Thyroxine Replacement ◽  
Infancy And Early Childhood

When diagnosed through neonatal screening and treated promptly and adequately, infants with congenital hypothyroidism (CH) experience normal physical growth and neurological development. Here we present a 3-year-old boy diagnosed with CH as a newborn, who was subsequently left untreated and experienced significant growth failure and developmental delay. This case emphasizes the importance of a consistent adherence to treatment in preventing such complications, especially in infancy and early childhood.

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

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