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Keywords Global developmental delay Spe...

Global developmental delay Speech therapy

https://read.qxmd.com/read/38288202/vein-of-galen-aneurysmal-malformation-a-case-report-and-literature-review
#1
Khushi Bhattarai, Marmik Patel, Monica Garcia, Florentina Litra
The vein of Galen aneurysmal malformation (VGAM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median pros encephalic vein of Markowski. Although most of the VGAM cases are diagnosed in the neonatal period, sometimes it can also present during early childhood. It is very crucial to intervene immediately following the diagnosis because if left untreated, morbidity and mortality are imminent. The most common causes of morbidity and mortality are high-output congestive heart failure (most common neonatal presentation), hydrocephalus (most common presentation in infants), headache, and seizures...
December 2023: Curēus
https://read.qxmd.com/read/38186850/pyruvate-carboxylase-deficiency-type-c-variable-presentation-and-beneficial-effect-of-triheptanoin
#2
I Bernhardt, L Van Dorp, M Dixon, M McSweeney, C Gan, J Baruteau, A Chakrapani
Pyruvate carboxylase is a mitochondrial enzyme essential for the tricarboxylic acid cycle (TCA), gluconeogenesis and fatty-acid synthesis. Pyruvate carboxylase deficiency (PCD) mostly presents with life-limiting encephalopathy (types A/B). A milder type C presentation is rare, with a comparatively favourable prognosis. Therapies remain essentially supportive. Triheptanoin is an odd-chain triglyceride, with the potential to replenish TCA intermediates (anaplerosis), and its metabolites cross the blood-brain-barrier...
January 2024: JIMD Reports
https://read.qxmd.com/read/37342752/a-case-study-of-early-diagnosed-angelman-syndrome-recognizing-atypical-clinical-presentations
#3
Han Dang, Sandhya Srinivasa, Sun Young Lee, Clifford Alprin
Angelman syndrome (AS) is a rare pediatric neurological condition in which patients most commonly present with inappropriate laughter, microcephaly, speech difficulties, seizures, and movement disorders. AS can be diagnosed clinically and confirmed with genetic testing. In this case report, the patient presented with 9.3% weight loss at two days of age. Although there were multiple attempts at lactational counseling and nutritional guidance, the patient was admitted to the hospital due to failure to thrive...
May 2023: Curēus
https://read.qxmd.com/read/36973888/x-linked-myotubular-myopathy-a-clinical-report-and-a-review-of-the-mild-phenotype
#4
R Barreto-Mota, J Figueirinha, R Quental, J Fonseca, C Melo, M Sampaio, R Sousa
INTRODUCTION: X-linked myotubular myopathy is a rare centronuclear myopathy that affects approximately 1 in 50,000 male newborns caused by pathogenic variants in the myotubularin 1 gene (MTM1). The clinical severity varies, however the need for ventilatory support occurs almost invariably. CASE REPORT: We report the case of a 4-year-old boy presenting mild muscle hypotonia at 12 months-old, expressive language disorder, global developmental delay, and a sensory processing disorder...
April 1, 2023: Revista de Neurologia
https://read.qxmd.com/read/36845779/phenotypes-of-a-female-patient-with-novel-de-novo-frameshift-arx-variant-identified-by-whole-exome-sequencing-a-case-report
#5
JOURNAL ARTICLE
Kristy Iskandar, Elisabeth S Herini, Agung Triono, Marissa L Hadiyanto, Andika P Nugrahanto, Gunadi
UNLABELLED: Variants in the aristaless-related homeobox ( ARX ) gene cause a diverse spectrum of phenotypes of neurodevelopmental disorders (NDD) in male patients. This article describes the role of genetic testing using whole-exome sequencing (WES) in detecting a novel de novo frameshift variant in the ARX gene in a female patient with autism, seizure, and global developmental delay. CASE PRESENTATION: A 2-year-old girl with frequent seizures, global developmental delay, and autistic features was referred to our hospital...
February 2023: Annals of Medicine and Surgery
https://read.qxmd.com/read/36194413/cross-sectional-comparison-of-disparities-by-race-using-white-vs-hispanic-as-reference-among-children-and-youths-with-developmental-disabilities-referred-for-speech-therapy
#6
JOURNAL ARTICLE
Thomas Elliott, Kortney Floyd James, Karen J Coleman, Kia Skrine Jeffers, Claudia L Nau, Kristen Choi
Importance: Health care research on racial disparities among children and youths has historically used the White race as a reference category with which other racial and ethnic groups are compared, which may inadvertently set up Whiteness as a standard for health. Objective: To compare 2 interpretations of an analysis of racial disparities in speech therapy receipt among children and youths with developmental disabilities: a traditional, White-referenced analysis and a Hispanic majority-referenced analysis...
October 3, 2022: JAMA Network Open
https://read.qxmd.com/read/36124076/supporting-the-mental-health-of-children-with-speech-language-and-communication-needs-the-views-and-experiences-of-parents
#7
JOURNAL ARTICLE
Hannah Hobson, Mya Kalsi, Louise Cotton, Melanie Forster, Umar Toseeb
Background and aims: A high rate of children in mental health services have poor language skills, but little evidence exists on how mental health support is delivered to and received by children with language needs. This study looked at parental experiences, asking parents of children with speech, language and communication needs (SLCN) about their experiences seeking help for their children's mental health. We were particularly interested on the experiences of parents of children with Developmental Language Disorder (DLD), a specific SLCN that remains relatively unknown to the general public...
January 2022: Autism & Developmental Language Impairments
https://read.qxmd.com/read/36004024/a-rare-case-of-pontocerebellar-hypoplasia-type-1b-with-literature-review
#8
Ana C Spyridakis, Ying Cao, Florentina Litra
A full-term female newborn was transferred to our neonatal intensive care unit (NICU) on day two of life for hypotonia. Physical examination was significant for overriding sutures, displaced small anterior fontanelle, axial hypotonia, extremity hypertonia, and slow deep tendon reflexes. She was also noted to have stridor with crying but had unlabored breathing without oxygen requirements and a normal heart examination. A brain magnetic resonance imaging (MRI) showed a large cisterna magna and cerebellar hypoplasia with the majority of the cerebellar vermis present, suggesting a possible Dandy-Walker variant (cerebellar vermis hypoplasia)...
July 2022: Curēus
https://read.qxmd.com/read/35444965/identification-of-a-hemizygous-novel-splicing-variant-in-atrx-gene-a-case-report-and-literature-review
#9
JOURNAL ARTICLE
Yan Cong, Jie Wu, Hao Wang, Ke Wu, Cui Huang, Xuejian Yang
Background: Alpha-thalassemia/intellectual disability syndrome (ATR-X) (OMIM # 301040) was first described by Wilkie et al. (1). Several studies found that children who presented with significantly consistent clinical phenotypes of hemoglobin H (Hb H) disease and profound mental handicap carried ATRX chromatin remodeler ( ATRX , OMIM* 300032) gene variants. With the recent development of exome sequencing (ES), ATRX gene variants of severe to profound intellectual disability without alpha-thalassemia have been implicated in intellectual disability-hypotonic facies syndrome, X-linked, 1(MRXHF1, OMIM #309580)...
2022: Frontiers in Pediatrics
https://read.qxmd.com/read/34840252/challenging-case-the-role-of-genetic-testing-in-complex-autism
#10
JOURNAL ARTICLE
Mohadeseh Solgi, Jasmine Fernandez, Katharine E Zuckerman, Desiree Shapiro, Marilyn Augustyn
S is a 12-year-old boy with autism spectrum disorder (ASD), seizure disorder, cerebral palsy, and intellectual disability who presented to the primary care clinician for a preventative care visit.S was born at full term after an unremarkable pregnancy. His developmental delays were first noted at around 8 months, when he could not sit independently and had intermittently poor eye contact. He was referred to Part C Early Intervention and subsequently evaluated by a neurodevelopmental pediatrician, where he was noted to be hypotonic, with delayed motor and cognitive skills...
January 1, 2022: Journal of Developmental and Behavioral Pediatrics: JDBP
https://read.qxmd.com/read/34456303/the-value-of-telehealth-and-a-team-based-approach-in-improving-developmental-and-behavioral-care-during-the-covid-19-pandemic
#11
JOURNAL ARTICLE
Elizabeth W Barnhardt, Katherine Steingass, Ann Levine, Meg Jurbank, Julie Piercefield, Sarah S Nyp
Billy is a 2.6-year-old boy who presented for evaluation in the developmental-behavioral pediatrics (DBP) clinic 2 weeks before the onset of pandemic-related clinic restrictions. Billy had received early intervention for the past year because of speech and fine motor delays. Billy's parents requested the evaluation in the DBP clinic because his delayed speech and disruptive behaviors had raised concern that he may have autism spectrum disorder. Owing to the onset of the pandemic, subsequent visits were completed through telehealth with a developmental-behavioral pediatrician, psychologist, behavioral clinician, and social workers who developed a collaborative plan of care...
September 1, 2021: Journal of Developmental and Behavioral Pediatrics: JDBP
https://read.qxmd.com/read/34433202/importance-of-trauma-informed-practice-in-evaluation-of-children-diagnosed-with-autism-spectrum-disorder
#12
JOURNAL ARTICLE
Adam Langenfeld, Maria Kroupina, Alyssa Palmer, Kimara Gustafson, Marilyn Augustyn
As part of a multidisciplinary adoption support clinic, Erin, a 5-year-old girl, adopted approximately 6 months before the clinic visit, presents for postadoption evaluation. Erin was born at full term. Her birth history was significant for reported maternal treatment for liver failure during pregnancy. Her previous medical history included hospitalization for a viral illness at age 2 months, recurrent ear infections, and a fractured forearm. Family history was significant for a maternal history of bipolar disorder, depression, anxiety, borderline personality disorder, and concern for substance abuse; a paternal history of attention-deficit/hyperactivity disorder (ADHD) and depression; and full biological brother with a history of ADHD and oppositional defiant disorder...
October 2021: Journal of Developmental and Behavioral Pediatrics: JDBP
https://read.qxmd.com/read/32730421/genital-malformation-trigger-of-the-diagnosis-of-severe-variants-of-klinefelter-syndrome
#13
JOURNAL ARTICLE
José Luis Fadil Iturralde, Jorge Marani, Martha Lahoz García, Silvia Carbognani, Verónica Luccerini, Horacio Juan Damiani, Juan Carlos Contardi
INTRODUCTION: Among the disorders of sexual development, Klinefelter syndrome and its variants are classified as an alteration in the number of sex chromosomes. These patients show signs of hypergonadotropic hypogonadism at puberty, however cases of severe variants also present neurocognitive and language problems from an early age. OBJECTIVE: To describe two patients with genital malformation with genetic diagnosis of severe variants of Klinefelter syndrome, and to review clinical and therapeutic aspects...
February 2020: Revista Chilena de Pediatría
https://read.qxmd.com/read/30325123/speech-delay-in-toddlers-are-they-only-late-talkers
#14
JOURNAL ARTICLE
Pınar Zengin-Akkuş, Tuba Çelen-Yoldaş, Gökçe Kurtipek, Elif Nursel Özmert
Zengin-Akkuş P, Çelen-Yoldaş T, Kurtipek G, Özmert EN. Speech delay in toddlers: Are they only `late talkers`?. Turk J Pediatr 2018; 60: 165-172. Speech delay is prevalent in toddlers. Although some children with speech delay are able to catch up with their peers with time, the delay might be part of a broader condition such as global developmental delay, which requires specific diagnostic work-up. The current study aimed to present the demographic features, developmental profiles of the first 100 preschool-aged children who were seen at Hacettepe University İhsan Doğramacı Children`s Hospital-Developmental Pediatrics Unit with parental concern of speech delay...
2018: Turkish Journal of Pediatrics
https://read.qxmd.com/read/28963116/phelan-mcdermid-syndrome-due-to-shank3-mutation-in-an-intellectually-disabled-adult-male-successful-treatment-with-lithium
#15
JOURNAL ARTICLE
Jos I M Egger, Willem M A Verhoeven, Renske Groenendijk-Reijenga, Sarina G Kant
For 30 years, Phelan and co-workers described a syndrome characterised by neonatal hypotonia, global developmental delay, strongly impaired speech, sleep disturbances and hyperreactivity to sensory stimuli. This Phelan-McDermid syndrome (PMS), also presenting with symptoms from the autism spectrum and a higher risk of developing seizure disorders, may be caused by a deletion of chromosome 22q13 or by a mutation in the SHANK3 gene. Its core psychopathological phenotype comprises symptoms from the bipolar spectrum for which generally treatment with a mood-stabilising anticonvulsant in combination with an atypical antipsychotic seems to be most effective...
September 28, 2017: BMJ Case Reports
https://read.qxmd.com/read/28345786/a-de-novo-nonsense-mutation-in-zbtb18-plus-a-de-novo-15q13-3-microdeletion-in-a-6-year-old-female
#16
JOURNAL ARTICLE
Nadja Ehmke, Sylvio Karge, Johannes Buchmann, Dirk Korinth, Denise Horn, Olaf Reis, Frank Häßler
ZBTB18 has been proposed as candidate gene for microcephaly and abnormalities of the corpus callosum based on overlapping microdeletions of 1q43q44. More recently, de novo mutations of ZBTB18 have been identified in patients with syndromic and non-syndromic intellectual disability. Heterozygous microdeletions of 15q13.3 encompassing the candidate gene CHRNA7 are associated with developmental delay or intellectual disability with speech problems, hypotonia, and seizures. They are characterized by significant variability and reduced penetrance...
May 2017: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/28018439/phelan-mcdermid-syndrome-presenting-with-developmental-delays-and-facial-dysmorphisms
#17
JOURNAL ARTICLE
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3 , RAB , RABL2B , and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis...
November 2016: Korean Journal of Pediatrics
https://read.qxmd.com/read/26872355/protein-energy-malnutrition-is-frequent-and-precocious-in-children-with-cri-du-chat-syndrome
#18
JOURNAL ARTICLE
Violaine Lefranc, Arnaud de Luca, Régis Hankard
Protein-energy malnutrition (PEM) is poorly reported in cri du chat syndrome (CDCS) (OMIM #123450), a genetic disease that causes developmental delay and global growth retardation. The objective was to determine the nutritional status at different ages in children with CDCS and factors associated with PEM. A questionnaire focused on growth and nutritional care was sent to 190 families. Among 36 analyzable questionnaires, growth and nutritional indices compatible with PEM occurred in 47% of patients: 19% before 6 months of age, 24% between 6-12 months and 34% after 12 months...
May 2016: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/25326156/cdc-kerala-15-developmental-evaluation-clinic-2-10-y-developmental-diagnosis-and-use-of-home-intervention-package
#19
COMPARATIVE STUDY
M K C Nair, M A Lakshmi, S Latha, Geetha Lakshmi, G S Harikumaran Nair, Deepa Bhaskaran, Babu George, M L Leena, Paul Swamidhas Sudhakar Russell
OBJECTIVE: To describe the last 5 years' experience of Child Development Centre (CDC), Kerala Developmental Evaluation Clinic II for children between 2 and 10 y, referred for suspicion of developmental lag in the preschool years and scholastic difficulty in the primary classes with specific focus on developmental profile and the experience of the home based intervention package taught to the mothers. METHODS: A team of evaluators including developmental therapist, preschool teacher with special training in clinical child development, speech therapist, special educator, clinical psychologist and developmental pediatrician assessed all the children referred to CDC Kerala...
December 2014: Indian Journal of Pediatrics
https://read.qxmd.com/read/25160545/early-neurodevelopmental-screening-in-tuberous-sclerosis-complex-a-potential-window-of-opportunity
#20
JOURNAL ARTICLE
Tanjala T Gipson, Gwendolyn Gerner, Siddharth Srivastava, Andrea Poretti, Rebecca Vaurio, Adam Hartman, Michael V Johnston
BACKGROUND: Infants born with tuberous sclerosis complex, a genetic condition resulting from a mutation in TSC1 or TSC2, are at increased risk for intellectual disability and/or autism. Features of epilepsy, neuropathology, genetics, as well as timing and type of mechanism-based medications have been proposed as risk factors. Neurodevelopmental outcomes have been reported among these studies; however, few include data about the individuals' early neurodevelopmental profile, a factor that may contribute significantly to these outcomes...
September 2014: Pediatric Neurology
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