What is the Developmental Outcomes of Patients with 22q11 Deletion Sequence?

Discussion 22q11.2 deletion sequence (22q11) is the most common micro-deletion syndrome. Most deletions are de novo. It affects ~1 in 2000-4000 live births. As it is autosomal, it affects males and females equally. Childhood mortality is low and often associated with congenital heart defects. Its phenotypic expression is highly variable. Some of the most common medical problems are: Congenital heart defects especially conotruncal abnormalities Palatal problems especially velopharyngeal incompetence and/or cleft lip/palate Immunodeficiency especially T-cell lymphopenia, but also abnormalities of IgG production, autoimmune and humoral defects Hypoparthyroidism resulting in hypocalcemia – may be evident also only at times of stress Genitourinary abnormalities – renal agensis, hydronephrosis, absent uterus, cryptoorchidism, hypospadias Feeding – gastroesophageal reflux, dysphagia, constipation Dysmorphic features included hooded eyelids, hypertelorism, auricular or nasal abnormalities, small mouth and micrognathia. Cleft lip, cleft palate and Pierre Robin Sequence are also seen. Learning Point The cognitive and social phenotypes of patients with 22q11 has a wide variability in the overall development and trajectory of individual children because of genetics and the environment. In infancy and early childhood (0-4 years) studies show more gross motor and expressive language delays compared to siblings or other controls. In preschool to adolescence (4-18 yea...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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Publication date: Available online 17 November 2018Source: Journal of Clinical NeuroscienceAuthor(s): Peter G. Passias, Cheongeun Oh, Samantha R. Horn, Han Jo Kim, D. Kojo Hamilton, Daniel M. Sciubba, Brian J. Neuman, Aaron J. Buckland, Gregory W. Poorman, Frank A. Segreto, Cole A. Bortz, Avery E. Brown, Themistocles S. Protopsaltis, Eric O. Klineberg, Christopher Ames, Justin S. Smith, Virginie Lafage, International Spine Study GroupAbstractWe developed a predictive model to describe risk factors for complications in cervical deformity surgeries. Cervical deformity (CD) surgical patients are growing in number, but remain ...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
Abstract BACKGROUND: To date, no studies have been published that have assessed the optimal position of sling immobilization after anatomic total shoulder arthroplasty for glenohumeral osteoarthritis. METHODS: Thirty-six patients undergoing anatomic total shoulder arthroplasty for osteoarthritis were randomized to a neutral rotation sling versus an internal rotation sling. The primary outcomes assessed included the Disabilities of the Arm, Shoulder and Hand score; Western Ontario Osteoarthritis of the Shoulder score; Single Assessment Numeric Evaluation score; visual analog scale (VAS) scores for pain and sat...
Source: Hand Surgery - Category: Surgery Authors: Tags: J Shoulder Elbow Surg Source Type: research
CONCLUSIONS: Even though more randomized controlled trials concerned with WBT are needed, consideration of psychological well-being may unravel innovative approaches to the prevention, assessment and treatment of mood and anxiety disorders. PMID: 30445901 [PubMed - as supplied by publisher]
Source: Nordic Journal of Psychiatry - Category: Psychiatry Tags: Nord J Psychiatry Source Type: research
Authors: Karpov B, Joffe G, Aaltonen K, Oksanen J, Suominen K, Melartin T, Baryshnikov I, Koivisto M, Heikkinen M, Isometsä ET Abstract BACKGROUND: Poor adherence to psychiatric treatment is a common clinical problem, leading to unfavourable treatment outcome and increased healthcare costs. AIM: The aim of this study was to investigate the self-reported adherence and attitudes to outpatient visits and pharmacotherapy in specialized care psychiatric patients. METHODS: Within the Helsinki University Psychiatric Consortium (HUPC) pilot study, in- and outpatients with schizophrenia or schizoaffective disor...
Source: Nordic Journal of Psychiatry - Category: Psychiatry Tags: Nord J Psychiatry Source Type: research
Publication date: Available online 17 November 2018Source: Best Practice &Research Clinical RheumatologyAuthor(s): Alan D. SalamaAbstractSmall-vessel vasculitides are uncommon autoimmune diseases characterised by inflammation and necrosis of arterioles, capillaries and venules, frequently described as various (previously eponymous) clinical syndromes. Some are associated with vessel wall immune complex deposition, whereas others are pauci-immune but paradoxically often associated with circulating anti-neutrophil cytoplasmic antibodies (ANCA). Most is known about the pathogenesis of the pauci-immune ANCA-associated synd...
Source: Best Practice and Research Clinical Rheumatology - Category: Rheumatology Source Type: research
This study (N = 680) sought to extend understanding of such links by examining how individual differences in aspirations for status and inclusion correlated with psychological health (higher trait self-esteem, lower trait anxiety). Whereas perceptions of higher status and inclusion showed a positive link to psychological health, higher aspirations for status and inclusion showed a negative link. The former and latter pairs of links persisted after controlling for one another, and no evidence emerged of moderation. It is beneficial to perceive one's status and inclusion as high, but not to aspire for them to be, regardl...
Source: Personality and Individual Differences - Category: Psychiatry & Psychology Source Type: research
ConclusionOur findings indicate that ECT may induce brain plasticity as indexed by grey matter volume change during the treatment of schizophrenia via distinct mechanics from those by antipsychotic medications. ECT may ameliorate the positive psychotic symptoms of patients suffering from schizophrenia by preferentially targeting limbic brain areas such as the parahippocampal gyrus/hippocampus.
Source: Brain Stimulation - Category: Neurology Source Type: research
Publication date: March 2019Source: IJC Heart &Vasculature, Volume 22Author(s): Lena Larsson, Bengt Johansson, Karin Wadell, Ulf Thilén, Camilla SandbergAbstractBackgroundPhysical activity reduces the risk of acquired cardiovascular disease, which is of great importance in patients with congenital heart disease (CHD). There are diverging data whether physical activity level (PAL) differs between patients with CHD and controls. Furthermore, it is unknown if PAL can be reliably assessed in patients with CHD using self-reported instruments.MethodsSeventy-five patients with CHD (mean age 37.5 ± 15.5 yea...
Source: IJC Heart and Vasculature - Category: Cardiology Source Type: research
Publication date: December 2018Source: Journal of Anxiety Disorders, Volume 60Author(s):
Source: Journal of Anxiety Disorders - Category: Psychiatry Source Type: research
In conclusion, general symptom severity was found to be an important diagnostic characteristic in this population. Integrated treatments targeting the broad spectrum of mental health problems may be of importance in treating patients that show low therapeutic recovery.
Source: Journal of Anxiety Disorders - Category: Psychiatry Source Type: research
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