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https://www.readbyqxmd.com/read/28090701/the-nationwide-register-based-prevalence-of-intellectual-disability-during-childhood-and-adolescence
#1
H Westerinen, M Kaski, L J Virta, H Kautiainen, K H Pitkälä, M Iivanainen
BACKGROUND: Many studies have evaluated the prevalence of intellectual disability (ID) by focusing on different ages during childhood and adolescence. Although the prevalence of ID is higher in older age groups, how cumulative prevalence increases, and what level it reaches before adulthood, remains unclear. METHOD: We used Care Register for Health Care to retrieve information on individuals born in 1996-2007 with any of the inclusion diagnoses of ID (F7 group and/or aetiological diagnoses) for the period 1996 to 2013...
January 16, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#2
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087544/children-s-experiences-of-chronic-fatigue-syndrome-myalgic-encephalomyelitis-cfs-me-a-systematic-review-and-meta-ethnography-of-qualitative-studies
#3
Roxanne M Parslow, Sarah Harris, Jessica Broughton, Adla Alattas, Esther Crawley, Kirstie Haywood, Alison Shaw
OBJECTIVE: To synthesis the qualitative studies of children's experiences of chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME). DESIGN: Systematic review and meta-ethnography. BACKGROUND: CFS/ME is an important disabling illness, with uncertain cause and prognosis. As a result, children with CFS/ME can find themselves living with greater uncertainty and stigma, exacerbating the impact of the condition. There is a growing body of qualitative research in CFS/ME, yet there has been no attempt to systematically synthesis the studies involving children...
January 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28075089/autism-spectrum-disorder-primary-care-principles
#4
Kristian E Sanchack, Craig A Thomas
Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills...
December 15, 2016: American Family Physician
https://www.readbyqxmd.com/read/28072643/early-life-trauma-in-hospitalized-patients-with-mood-disorders-and-its-association-with-clinical-outcomes
#5
Ajay K Parsaik, Noha Abdelgawad, Jigar K Chotalia, Scott D Lane, Teresa A Pigott
BACKGROUND: The prevalence of childhood trauma and its impact on clinical outcomes in hospitalized patients with mood disorders is unknown. We studied the frequency of childhood trauma among inpatient adults with mood disorders and its association with clinical outcomes. METHODS: Patients admitted to our hospital with a primary diagnosis of mood disorders completed the short form of the Early Trauma Inventory-Self-Report (ETISR-SF), the Sheehan Disability Scale, and the Clinician-Rated Dimensions of Psychosis Symptom Severity scale...
January 2017: Journal of Psychiatric Practice
https://www.readbyqxmd.com/read/28070932/the-experience-of-adult-children-of-mothers-with-intellectual-disability-a-qualitative-retrospective-study-from-poland
#6
Agnieszka Wołowicz-Ruszkowska, David McConnell
BACKGROUND: Little is known about the experience of growing up with a mother with intellectual disability. The aim of this study was to explore this experience from the perspective of adult children. METHOD: In-depth interviews with 23 adult children brought up by mothers with moderate-to-severe intellectual disability. The interview data were analysed using grounded theory methods. RESULTS: The childhood experiences of the interviewees and the role their mothers played in their upbringing varied, depending in part on the involvement of extended family...
January 10, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28066530/play-hands-protective-gloves-technical-note-on-design-and-concept
#7
Michele Houston-Hicks, Derek J Lura, M Jason Highsmith
Cerebral Palsy (CP) is the leading cause of childhood motor disability, with a global incidence of 1.6 to 2.5/1,000 live births. Approximately 23% of children with CP are dependent upon assistive technologies. Some children with developmental disabilities have self-injurious behaviors such as finger biting but also have therapeutic needs. The purpose of this technical note is to describe design considerations for a protective glove and finger covering that maintains finger dexterity for children who exhibit finger and hand chewing (dermatophagia) and require therapeutic range of motion and may benefit from sensory stimulation resulting from constant contact between glove and skin...
September 2016: Technology and Innovation
https://www.readbyqxmd.com/read/28053283/co-morbidity-in-attention-deficit-hyperactivity-disorder-a-clinical-study-from-india
#8
P Jacob, S Srinath, S Girimaji, S Seshadri, J V Sagar
OBJECTIVE: To assess the prevalence of neurodevelopmental and psychiatric co-morbidities in children and adolescents diagnosed with attention-deficit hyperactivity disorder at a tertiary care child and adolescent psychiatry centre. METHODS: A total of 63 children and adolescents who were diagnosed with attention-deficit hyperactivity disorder and fulfilled the inclusion criteria were comprehensively assessed for neurodevelopmental and psychiatric co-morbidities...
December 2016: East Asian Archives of Psychiatry: Official Journal of the Hong Kong College of Psychiatrists
https://www.readbyqxmd.com/read/28050900/planned-early-birth-versus-expectant-management-waiting-for-prelabour-rupture-of-membranes-at-term-37-weeks-or-more
#9
REVIEW
Philippa Middleton, Emily Shepherd, Vicki Flenady, Rosemary D McBain, Caroline A Crowther
BACKGROUND: Prelabour rupture of membranes (PROM) at term is managed expectantly or by planned early birth. It is not clear if waiting for birth to occur spontaneously is better than intervening, e.g. by inducing labour. OBJECTIVES: The objective of this review is to assess the effects of planned early birth (immediate intervention or intervention within 24 hours) when compared with expectant management (no planned intervention within 24 hours) for women with term PROM on maternal, fetal and neonatal outcomes...
January 4, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28046205/dietary-advice-interventions-in-pregnancy-for-preventing-gestational-diabetes-mellitus
#10
REVIEW
Joanna Tieu, Emily Shepherd, Philippa Middleton, Caroline A Crowther
BACKGROUND: Gestational diabetes mellitus (GDM) is a form of diabetes occurring during pregnancy which can result in short- and long-term adverse outcomes for women and babies. With an increasing prevalence worldwide, there is a need to assess strategies, including dietary advice interventions, that might prevent GDM. OBJECTIVES: To assess the effects of dietary advice interventions for preventing GDM and associated adverse health outcomes for women and their babies...
January 3, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28040736/adverse-childhood-experiences-and-disability-pension-in-early-midlife-results-from-a-swedish-national-cohort-study
#11
Emma Björkenstam, Anders Hjern, Bo Vinnerljung
BACKGROUND: Few studies have examined the association between adverse childhood experiences (ACEs) and disability pension (DP). The current study aimed to investigate the relationship between different ACEs, cumulative ACEs, and DP, and the mediating role of school performance. METHODS: We used a Swedish cohort of 522 880 individuals born between 1973 and 1978. ACEs included parental death, parental substance abuse and psychiatric disorder, substantial parental criminality, household public assistance, parental DP and child welfare intervention...
December 31, 2016: European Journal of Public Health
https://www.readbyqxmd.com/read/28038823/a-kcnq2-e515d-mutation-associated-with-benign-familial-neonatal-seizures-and-continuous-spike-and-waves-during-slow-wave-sleep-syndrome-in-taiwan
#12
Inn-Chi Lee, Jiann-Jou Yang, Shuan-Yow Li
BACKGROUND/PURPOSE: Pediatric epilepsy caused by a KCNQ2 gene mutation usually manifests as benign familial neonatal seizures (BFNS) during the 1(st) week of life. However, the exact mechanism, phenotype, and genotype of the KCNQ2 mutation are unclear. METHODS: We studied the KCNQ2 genotype from 75 nonconsanguineous patients with childhood epilepsy without an identified cause (age range: from 2 days to 18 years) and from 55 healthy adult controls without epilepsy...
December 27, 2016: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28036098/systematic-review-of-childhood-and-adolescent-risk-and-prognostic-factors-for-persistent-abdominal-pain
#13
REVIEW
A Huguet, J Olthuis, P J McGrath, M E Tougas, J A Hayden, J N Stinson, C T Chambers
: This review aimed to identify childhood and adolescence risk and prognostic factors associated with onset and persistence of persistent abdominal pain and related disability, and assess quality of the evidence. While findings suggest a possible role for negative emotional symptoms and parent mental health as risk and prognostic factors for onset and persistence of persistent abdominal pain the evidence is of poor quality overall, and nonexistent when it comes to prognostic factors associated with disability...
December 30, 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/28029161/down-syndrome-and-the-complexity-of-genome-dosage-imbalance
#14
Stylianos E Antonarakis
Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic gain dosage imbalances, including microduplications. The functional genomic exploration of the post-sequencing years of chromosome 21, and the generation of numerous cellular and mouse models, have provided an unprecedented opportunity to decipher the molecular consequences of genome dosage imbalance. Studies of Down syndrome could provide knowledge far beyond the well-known characteristics of intellectual disability and dysmorphic features, as several other important features, including congenital heart defects, early ageing, Alzheimer disease and childhood leukaemia, are also part of the Down syndrome phenotypic spectrum...
December 28, 2016: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/28025620/a-novel-crybb2-stopgain-mutation-causing-congenital-autosomal-dominant-cataract-in-a-chinese-family
#15
Yu Zhou, Yaru Zhai, Lulin Huang, Bo Gong, Jie Li, Fang Hao, Zhengzheng Wu, Yi Shi, Yin Yang
Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples...
2016: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28017556/bilateral-globus-pallidus-internus-deep-brain-stimulation-for-dyskinetic-cerebral-palsy-supports-success-of-cochlear-implantation-in-a-5-year-old-ex-24%C3%A2-week-preterm-twin-with-absent-cerebellar-hemispheres
#16
Jean-Pierre Lin, Margaret Kaminska, Sarah Perides, Hortensia Gimeno, Lesley Baker, Daniel E Lumsden, Anzell Britz, Sandra Driver, Alec Fitzgerald-O'Connor, Richard Selway
BACKGROUND: Early onset dystonia (dyskinesia) and deafness in childhood pose significant challenges for children and carers and are the cause of multiple disability. It is particularly tragic when the child cannot make use of early cochlear implantation (CI) technology to relieve deafness and improve language and communication, because severe cervical and truncal dystonia brushes off the magnetic amplifier behind the ears. Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) neuromodulation can reduce dyskinesia, thus supporting CI neuromodulation success...
December 10, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28012515/the-utility-of-early-developmental-assessments-on-understanding-later-nonverbal-iq-in-children-who-are-deaf-or-hard-of-hearing
#17
Jareen Meinzen-Derr, Susan Wiley, Jannel Phillips, Mekibib Altaye, Daniel I Choo
OBJECTIVE: In children who are deaf or hard of hearing (DHH), it is helpful to have meaningful early measures of development in order to provide effective interventions and offer benchmarks that help recognize varied developmental trajectories. The main objective of this study was to compare results of an early developmental assessment prior to 3 years of age to later nonverbal IQ assessed between 3 and 6 years of age in children who are DHH. METHODS: This study included children 3-6 years of age with bilateral permanent hearing who were enrolled in a prospective cohort study on developmental outcomes...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28011137/cumulative-risk-over-the-early-life-course-and-its-relation-to-academic-achievement-in-childhood-and-early-adolescence
#18
Laufey Dís Ragnarsdottir, Alfgeir L Kristjansson, Ingibjorg Eva Thorisdottir, John P Allegrante, Heiddis Valdimarsdottir, Steinunn Gestsdottir, Inga Dora Sigfusdottir
Early-life risk factors, such as family disruption, maltreatment, and poverty, can negatively impact children's scholastic abilities; however, most previous studies have relied on cross-sectional designs and retrospective measurement. This study investigated the relation between cumulative risk factors during the early life course and subsequent academic achievement in a cohort of children and adolescents. Data for this study were based on registry-data material from the LIFECOURSE study of 1151 children from the 2000 birth cohort in Reykjavik, Iceland, assembled in 2014-2016...
December 20, 2016: Preventive Medicine
https://www.readbyqxmd.com/read/28011082/-neonatal-arterial-ischemic-stroke-review-of-the-current-guidelines
#19
E Saliba, T Debillon, S Auvin, O Baud, V Biran, J-L Chabernaud, S Chabrier, F Cneude, A-G Cordier, V Darmency-Stamboul, J-F Diependaele, T Debillon, M Dinomais, C Durand, A Ego, G Favrais, Y Gruel, L Hertz-Pannier, B Husson, S Marret, S N'Guyen The Tich, T Perez, E Saliba, J-B Valentin, C Vuillerot
Neonatal arterial ischemic stroke (NAIS) is a rare event that occurs in approximately one in 5000 term or close-to-term infants. Most affected infants will present with seizures. Although a well-recognized clinical entity, many questions remain regarding diagnosis, risk factors, treatment, and follow-up modalities. In the absence of a known pathophysiological mechanism and lack of evidence-based guidelines, only supportive care is currently provided. To address these issues, a French national committee set up by the French Neonatal Society (Société française de néonatologie) and the national referral center (Centre national de référence) for arterial ischemic stroke in children drew up guidelines based on an HAS (Haute Autorité de santé [HAS]; French national authority for health) methodology...
December 20, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27994834/lady-with-erotic-preference-for-diapers
#20
Zack Cernovsky, Yves Bureau
A patient in her 20s was referred to us for psychological assessment due to her depression and suicide attempts. She mentioned being anorgasmic except when diapered and emphasized her erotic preference for diapers. Her childhood included maternal deprivation in an impecunious family headed by an irritable physically disabled father on social assistance. Given the maternal deprivation in childhood, her erotic fixation on diapers parallels the emotional attachment to diapers observed by Harlow in mother deprived infant monkeys...
November 23, 2016: Mental Illness
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