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developmental delays

Ruth E K Stein, Ellen J Silver, Marilyn C Augustyn, Nathan J Blum, Pamela High, Nancy J Roizen
BACKGROUND: It is unknown how insurance status affects elements of evaluation at developmental behavioral (DB) pediatric sites. OBJECTIVE: To compare DB referrals, evaluation, and treatment for children with Medicaid and private insurance. DESIGN/METHODS: Fifty-six developmental behavioral pediatricians at 12 sites recorded anonymous data on structured forms for ≤15 consecutive referrals. Children with Medicaid (n = 309) and private insurance (n = 393) were compared on sociodemographic factors, referral concerns, evaluation elements, and resulting diagnoses...
March 19, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
Horacio Lejarraga, Diana M Kelmansky, Alicia Masautis, Fernando Nunes
OBJECTIVE: To obtain a psychomotor development index (PDI) for each Argentine province. POPULATION AND METHODS: Using a national, probabilistic, and stratified sample of 13 323 male and female children younger than 6 years selected for the National Survey on Nutrition and Health (Encuesta Nacional de Nutrición y Salud, ENNyS 2004), we estimated the PDI per province based on compliance with 10 developmental milestones. The median age at attainment (median age) of each milestone was estimated adjusting a logistic regression...
April 1, 2018: Archivos Argentinos de Pediatría
Horacio Lejarraga, Diana M Kelmansky, Fernando Nunes
OBJECTIVE: To describe the dynamics of development along the early years of life among children living under unfavorable socioeconomic conditions. POPULATION AND METHODS: In 5401 children younger than 6 years old living in Florencio Varela and in the Matanza-Riachuelo River Basin (Matanza, Villa 21-24, Wilde, Villa Inflamable and Acuba), areas with a high proportion of families with unmet basic needs, a logistic regression analysis was used to estimate the median age at attainment of 13 psychomotor developmental milestones; differences between these ages and median age at attainment of milestones as per the national reference were plotted on the y-axis, while the median age as per the national reference was plotted on the x-axis...
April 1, 2018: Archivos Argentinos de Pediatría
Magalie S Leduc, Marianne Mcguire, Suneeta Madan-Khetarpal, Damara Ortiz, Susan Hayflick, Kory Keller, Christine M Eng, Yaping Yang, Weimin Bi
PRR12 encodes a proline-rich protein nuclear factor suspected to be involved in neural development. Its nuclear expression in fetal brains and in the vision system supports its role in brain and eye development more specifically. However, its function and potential role in human disease has not been determined. Recently, a de novo t(10;19) (q22.3;q13.33) translocation disrupting the PRR12 gene was detected in a girl with intellectual disability and neuropsychiatric alterations. Here we report on three unrelated patients with heterozygous de novo apparent loss-of-function mutations in PRR12 detected by clinical whole exome sequencing: c...
March 19, 2018: Human Genetics
Satoshi Nobusako, Ayami Sakai, Taeko Tsujimoto, Takashi Shuto, Yuki Nishi, Daiki Asano, Emi Furukawa, Takuro Zama, Michihiro Osumi, Sotaro Shimada, Shu Morioka, Akio Nakai
The neurological basis of developmental coordination disorder (DCD) is thought to be deficits in the internal model and mirror-neuron system (MNS) in the parietal lobe and cerebellum. However, it is not clear if the visuo-motor temporal integration in the internal model and automatic-imitation function in the MNS differs between children with DCD and those with typical development (TD). The current study aimed to investigate these differences. Using the manual dexterity test of the Movement Assessment Battery for Children (second edition), the participants were either assigned to the probable DCD (pDCD) group or TD group...
2018: Frontiers in Neurology
Aparna Prasad, Matthew A Sdano, Rena J Vanzo, Patricia A Mowery-Rushton, Moises A Serrano, Charles H Hensel, E Robert Wassman
BACKGROUND: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders. METHODS: To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA...
March 20, 2018: BMC Medical Genetics
Larisa V Lysenko, Jeesun Kim, Francisco Madamba, Anna A Tyrtyshnaia, Aarti Ruparelia, Alexander M Kleschevnikov
Down syndrome (DS) is the most frequent genetic cause of developmental abnormalities leading to intellectual disability. One notable phenomenon affecting the formation of nascent neural circuits during late developmental periods is developmental switch of GABA action from depolarizing to hyperpolarizing mode. We examined properties of this switch in DS using primary cultures and acute hippocampal slices from Ts65Dn mice, a genetic model of DS. Cultures of DIV3-DIV13 Ts65Dn and control normosomic (2 N) neurons were loaded with FURA-2 AM, and GABA action was assessed using local applications...
March 14, 2018: Neurobiology of Disease
Maria Pefkianaki, Adele Schneider, Jenina E Capasso, Barry Wasserman, Tanya Bardakjian, Alex V Levin
Heterozygous mutation in the PACS1 (phosphofurin acidic cluster sorting proteins 1) gene is a known cause of developmental delay, multiple congenital anomalies, dysmorphism, and ocular abnormalities. We present the case of an affected 10-year-old girl, conceived by assisted reproductive technology, who has ocular coloboma and findings characteristic of PACS1 mutation.
March 14, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Jokthan Guivarch, Clarisse Chatel, Jeremie Mortreux, Chantal Missirian, Nicole Philip, François Poinso
BACKGROUND: Autism spectrum disorders are serious neurodevelopmental disorders that affect approximately 1% of the population. These disorders are substantially influenced by genetics. Several recent linkage analyses have examined copy number variations associated with autism risk. Microdeletion of the 2q13 region is considered a pathogenic copy number variation. This microdeletion is involved in developmental delays, congenital heart defects, dysmorphism, and various psychiatric disorders, including autism spectrum disorders...
March 18, 2018: Journal of Medical Case Reports
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C Jones, David P Dimmock, Stephen F Kingsmore, Rcigm Investigators
Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy number variants, and single gene mutations. CDH is the most expensive non-cardiac congenital defect: Management frequently requires implementation of Extracorporeal Membrane Oxygenation (ECMO), which increases management expenditures 2...
March 16, 2018: Cold Spring Harbor Molecular Case Studies
Zahraa Haidar, Nadine Jalkh, Sandra Corbani, Ali Fawaz, Eliane Chouery, André Mégarbané
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life. Both types are unresponsive to conventional anticonvulsant therapy, but can be controlled with pyridoxine monotherapy. Mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase have been reported to cause this disease in most patients...
March 10, 2018: Seizure: the Journal of the British Epilepsy Association
Fabien Cignetti, Marianne Vaugoyeau, Aurelie Fontan, Marianne Jover, Marie-Odile Livet, Catherine Hugonenq, Frédérique Audic, Brigitte Chabrol, Christine Assaiante
BACKGROUND AND AIM: Feedforward and online controls are two facets of predictive motor control from internal models, which is suspected to be impaired in learning disorders. We examined whether the feedforward component is affected in children (8-12 years) with developmental dyslexia (DD) and/or with developmental coordination disorder (DCD) compared to typically developing (TD) children. METHODS: Children underwent a bimanual unloading paradigm during which a load supported to one arm, the postural arm, was either unexpectedly unloaded by a computer or voluntary unloaded by the subject with the other arm...
March 13, 2018: Research in Developmental Disabilities
Nishant Patel, Jeffrey Forris Beecham Chick, Joseph J Gemmete, Jordan C Castle, Narasimham Dasika, Wael E Saad, Ravi N Srinivasa
OBJECTIVE: The objective of our study was to report the technique, complications, and clinical outcomes of interventional radiology-operated cholecystoscopy with stone removal for the management of symptomatic cholelithiasis. MATERIALS AND METHODS: Ten (77%) men and three (23%) women (mean age, 65 years) with symptomatic cholelithiasis underwent cholecystostomy followed by interventional radiology-operated cholecystoscopy with stone removal. Major comorbidities precluding cholecystectomy included prior cardiac, pulmonary, or abdominal surgery; cirrhosis; sepsis with hyponatremia; seizure disorder; developmental delay; and cholecystoduodenal fistula...
March 16, 2018: AJR. American Journal of Roentgenology
Samine Khandan, Hedyeh Riazi, Sedigheh Amir Ali Akbari, Malihe Nasiri, Ali Montazeri
OBJECTIVE: To assess the correlation between adaptation to maternal role (AMR) and infant development. BACKGROUND: Maternal role is an important key in infant's care and development. Previous findings demonstrated an inconsistency in the effect of the mother's adaptation on each domain of infant's development. METHODS: This cross-sectional study was conducted on 260 healthy mothers and healthy infants attending health centres affiliated to Shahid Beheshti University of Medical Sciences in Tehran in 2016...
March 16, 2018: Journal of Reproductive and Infant Psychology
Taran S Sangari, Timothy W Martin
No abstract text is available yet for this article.
March 12, 2018: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
Emily P Dawson, Denise G Lanza, Nicholas J Webster, Susan M Benton, Isao Suetake, Jason D Heaney
Testicular teratomas result from anomalies in embryonic germ cell development. In 129 inbred mice, teratoma initiation coincides with germ cell sex-specific differentiation and the mitotic-meiotic switch: XX and XY germ cells repress pluripotency, XX germ cells initiate meiosis, and XY germ cells activate male-specific differentiation and mitotic arrest. Here, we report that expression of Nanos2 , a gene that is crucial to male sex specification, is delayed in teratoma-susceptible germ cells. Decreased expression of Nanos2 was found to be due, in part, to the Nanos2 allele present in 129 mice...
March 15, 2018: Development
Gözde Yeşil, Ayşe Aralaşmak, Enes Akyüz, Dilara İçağasıoğlu, Türkan Uygur Şahin, Yavuz Bayram
BACKGROUND: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage and calcium-sensitive potassium channel (BK channels) which plays an important role in neuronal excitability. Heterozygous mutations in KCNMA1 were firstly described in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recently, homozygous KCNMA1 mutations were reported to cause a phenotype of cerebellar atrophy, developmental delay and seizures. CASE REPORT: Herein; we report a patient with a novel homozygous truncating mutation in KCNMA1 (p...
March 16, 2018: Balkan Medical Journal
Amit Acharyya, Pranit N Jadhav, Valentina Bono, Koushik Maharatna, Ganesh R Naik
BACKGROUND AND OBJECTIVE: EEG is a non-invasive tool for neuro-developmental disorder diagnosis and treatment. However, EEG signal is mixed with other biological signals including Ocular and Muscular artifacts making it difficult to extract the diagnostic features. Therefore, the contaminated EEG channels are often discarded by the medical practitioners which may result in less accurate diagnosis. Many existing methods require reference electrodes, which will create discomfort to the patient/children and cause hindrance to the diagnosis of the neuro-developmental disorder and Brain Computer Interface in the pervasive environment...
May 2018: Computer Methods and Programs in Biomedicine
Charles Cai, Taimur Ahmad, Gloria B Valencia, Jacob V Aranda, Jiliu Xu, Kay D Beharry
OBJECTIVES: Extremely low gestational age neonates with chronic lung disease requiring oxygen therapy frequently experience fluctuations in arterial oxygen saturation or intermittent hypoxia (IH). These infants are at risk for multi-organ developmental delay, reduced growth, and short stature. The growth hormone (GH)/insulin-like growth factor-I (IGF-1) system, an important hormonal regulator of lipid and carbohydrate metabolism, promotes neonatal growth and development. We tested the hypothesis that increasing episodes of IH delay neonatal growth by influencing the GH/IGF-I axis...
March 8, 2018: Growth Hormone & IGF Research
Claire M Lawlor, Charles A Riley, John M Carter, Kimsey H Rodriguez
Importance: The 1996 Tonsillectomy and Adenoidectomy Inpatient Guidelines of the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) Pediatric Otolaryngology Committee recommended that children younger than 3 years be admitted following tonsillectomy. Recommendations for hospital observation were not included as a key action statement in the 2011 AAO-HNS Clinical Practice Guidelines for Tonsillectomy in Children. Objective: To examine the association between posttonsillectomy complication rate and the age and weight of the child at the time of surgery...
March 15, 2018: JAMA Otolaryngology—Head & Neck Surgery
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