Read by QxMD icon Read

Global developmental delay Speech therapy

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
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
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
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
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
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
Phillip L Pearl, Craig Sable, Sarah Evans, Joseph Knight, Parker Cunningham, Gaetano R Lotrecchiano, Andrea Gropman, Sheela Stuart, Penny Glass, Anne Conway, Issam Ramadan, Tania Paiva, Mark L Batshaw, Roger J Packer
BACKGROUND: A telemedicine program was developed between the Children's National Medical Center (CNMC) in Washington, DC, and the Sheikh Khalifa Bin Zayed Foundation in the United Arab Emirates (UAE). A needs assessment and a curriculum of on-site training conferences were devised preparatory to an ongoing telemedicine consultation program for children with neurodevelopmental disabilities in the underserved eastern region of the UAE. MATERIALS AND METHODS: Weekly telemedicine consultations are provided by a multidisciplinary faculty...
June 2014: Telemedicine Journal and E-health: the Official Journal of the American Telemedicine Association
Ravi B Patil, Pallavi Urs, Shital Kiran, Seema Dinesh Bargale
Global developmental delay (GDD) refers to a disturbance in an individual child across one or more developmental domains, which include motor, cognition, daily activities, speech and language. The present case discusses a 5-year-old child with GDD associated with infantile spasms treated with sodium valproate. Delay in the widespread acquisition of skills, epilepsy and poor oral hygiene with gingival enlargement was the main concern to seek medical aid. This case is special as the child was suffering from GDD associated with sodium valproate-induced gingival enlargement...
2014: BMJ Case Reports
Christopher R Tonn, Kenneth M Grundfast
IMPORTANCE: Otolaryngologists are asked to evaluate children who a parent, physician, or someone else believes is slow in developing speech. Therefore, an otolaryngologist should be familiar with milestones for normal speech development, the causes of delay in speech development, and the best ways to help assure that children develop the ability to speak in a normal way. OBJECTIVE: To provide information for otolaryngologists that is helpful in the evaluation and management of children perceived to be delayed in developing speech...
March 2014: JAMA Otolaryngology—Head & Neck Surgery
Sylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, G Christoph Korenke, Saadet Mercimek-Mahmutoglu, Iris Marquart, Bruce Barshop, Christiane Grolik, Andrea Schlune, Brad Angle, Helena Caldeira Araújo, Turgay Coskun, Luisa Diogo, Michael Geraghty, Goknur Haliloglu, Vassiliki Konstantopoulou, Vincenzo Leuzzi, Alina Levtova, Jennifer Mackenzie, Bruno Maranda, Aizeddin A Mhanni, Grant Mitchell, Andrew Morris, Theresa Newlove, Deborah Renaud, Fernando Scaglia, Vassili Valayannopoulos, Francjan J van Spronsen, Krijn T Verbruggen, Nataliya Yuskiv, William Nyhan, Andreas Schulze
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with additional epilepsy present in 35 and movement disorder in 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate and protein/arginine restricted diets. The median age at treatment initiation was 25...
January 2014: Molecular Genetics and Metabolism
Agnieszka Jurecka, Marie Zikanova, Elżbieta Jurkiewicz, Anna Tylki-Szymańska
We present a 9-year follow-up of a patient with an attenuated (type II) adenylosuccinate lyase deficiency with no obvious signs of disease progression and degradation. We also review the literature, focusing on attenuated phenotype, and we report a positive effect of a ketogenic diet on seizure control. The patient presented at the age of 5 months with a history of global developmental delay. Screening of urinary purine metabolites revealed elevation of succinyladenosine and succinylaminoimidazolecarboxamide riboside (a ratio of 2:1)...
February 2014: Neuropediatrics
Kirsty Le Doaré, Ruth Bland, Marie-Louise Newell
BACKGROUND: We reviewed the impact of HIV, HIV exposure, and antiretroviral therapy/prophylaxis on neurodevelopmental outcomes of HIV-infected and HIV-exposed-uninfected infants and children. METHODS: A literature search of Medline, Embase, PsychINFO, Web of Science, PubMed, and conference Web sites (1990-March 2011) using the search terms, infant, child, HIV, neurodevelopment, cognition, language, and antiretroviral therapy, identified 31 studies of HIV/antiretroviral exposure using standardized tools to evaluate infant/child development as the main outcome...
November 2012: Pediatrics
Wee Bin Lian, Selina Kah Ying Ho, Sylvia Hean Tean Choo, Varsha Atul Shah, Daisy Kwai Lin Chan, Cheo Lian Yeo, Lai Yun Ho
INTRODUCTION: Childhood developmental and behavioural disorders (CDABD) have been increasingly recognised in recent years. This study evaluated the profiles and outcomes of children referred for developmental and behavioural concerns to a tertiary child developmental centre in Singapore. This is the first such regional database. METHODS: Baseline information, obtained through a questionnaire, together with history at first consultation, provided information for referral, demographic and presentation profiles...
July 2012: Singapore Medical Journal
Beate Oerbeck, Jorunn Johansen, Kathe Lundahl, Hanne Kristensen
The aim was to examine the outcome of a multimodal treatment for selective mutism (SM). Seven children, aged three-five years, who were referred for SM were included. The treatment started at home and was continued at kindergarten for a maximum of six months, with predefined treatment goals in terms of speaking levels, from I ("Speaks to the therapist in a separate room with a parent present") through to VI ("Speaks in all kindergarten settings without the therapist present"). The outcome measures were the teacher-reported School Speech Questionnaire (SSQ) and the treatment goal obtained (I-VI) six months after the onset of treatment, and the SSQ and Clinical Global Impression Scale (CGI) at one-year follow-up...
July 2012: Clinical Child Psychology and Psychiatry
N Beligere, R Rao
There is a paucity of information on long-term outcome of infants who have suffered from meconium aspiration syndrome (MAS) in the neonatal period. We analyzed long-term developmental outcome data of 35 infants who were admitted to the neonatal intensive care unit (NICU) at the University of Illinois Hospital at Chicago (UICMC) with a diagnosis of MAS, and we reviewed the literature pertinent to the subject. The objective of the study was to assess the neurodevelopment status of MAS infants and compare the possible effects of different variables that are known to affect the later developmental outcome...
December 2008: Journal of Perinatology: Official Journal of the California Perinatal Association
Mary C Phelan
The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown...
2008: Orphanet Journal of Rare Diseases
C Billard
When a child faces difficulties in learning to read, clinicians should, first of all, examine cognitive functions. The actual reading level is checked using a test calibrated on normal reading development. They are thus able to differentiate between global learning disorders (related to mental deficiency or pervasive disorders) and specific reading impairment. Specific reading impairment might be a simple delay or developmental dyslexia. We described the first at-school training, as well as the criteria of speech therapy...
July 2006: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Sylvie Tétreault, Ann Parrot, Johanne Trahan
The present study presents a descriptive evaluation of home activity programs (HAP) in families living with a child diagnosed with global developmental delay (GDD) and investigates parental perceptions about the use of HAPs. Forty-one families were selected from an initial pool of 95. Application of the HAP--delivered by an occupational therapist, physical therapist or speech therapist--was evaluated via a telephone survey. Data about parental perceptions of the HAP was collected. The results indicate a high degree of compliance with the program; 31 families were still using the HAP after 7 months...
September 2003: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"