Single mother reveals her heartbreak of raising one-in-a-million twins with Down ’s syndrome

Emma Mullard, 36, of Lancashire, had one of 29 twins with Down's syndrome in the world. Alfie and Arthur, who are now six years old, can't speak or walk and have autism.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Abstract Students with Down syndrome (DS) receive school-based physical therapy (SBPT), however little data exists regarding services and outcomes. Using a prospective observational cohort study our aim was to explore SBPT activities and interventions, and students' goal achievement of 46 students with DS, tracked by 17 physical therapists (PTs). PTs provided on average 24.0 min/week direct service and 11.6 min/week services on behalf of the student. The most frequent activities employed were physical education/recreation, mobility, and sitting/standing/transitions. The most frequent interventions implem...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
AbstractCurcumin is widely consumed in Asia either as turmeric directly or as one of the culinary ingredients in food recipes. The benefits of curcumin in different organ systems have been reported extensively in several neurological diseases and cancer. Curcumin has got its global recognition because of its strong antioxidant, anti ‐inflammatory, anti‐cancer, and antimicrobial activities. Additionally, it is used in diabetes and arthritis as well as in hepatic, renal, and cardiovascular diseases. Recently, there is growing attention on usage of curcumin to prevent or delay the onset of neurodegenerative diseases. This...
Source: BioFactors - Category: Biochemistry Authors: Tags: REVIEW ARTICLE Source Type: research
(Natural News) The latest perverse fetish of the lesbian, gay, bisexual, transgender, queer, and pedophile (LGBTQP) cult is to prey on young children with mental disabilities, including little ones with Down syndrome or autism, and exploit them as transgender drag queens for sexual entertainment. During a recent episode of “The Alex Jones Show,” InfoWars host...
Source: - Category: Consumer Health News Source Type: news
Dr. Randi Hagerman is on the front lines of developing new treatments for kids with autism, Down syndrome and other developmental disorders.
Source: Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
We examined autism spectrum disorder (ASD) risk in a large national sample of 203 individuals with Down syndrome, 6-25 years old, to determine the association of ASD risk with age, sex, IQ, adaptive behaviors, and maladaptive behaviors. We used a two-pronged approach by (1) considering ASD symptomatology continuously across the sample of individuals with DS and examining associations with each characteristic, and (2) dichotomizing our sample into high and low ASD risk groups and comparing groups on each characteristic. The pattern of results was largely similar across both types of analyses. ASD symptomatology/risk wa...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
Fragile X syndrome(FXS) is most common congenital hereditary disease of low intelligence after Down Syndrome. Its main pathogenic gene is Fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism and Fragile X-related primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS). Fmr1 gene transcription leads to the absence of fragile X mental retardation protein (FMRP). How to relieve or cure disorders associated with FXS has also become a clinically disturbing problem. Previous studies have recently shown that Long noncoding RNAs (lncRNA) contribute to the ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
CONCLUSION: Findings indicate a consistent pattern of sensory processing impairments and associations with maladaptive behavior in children with DS. Implications for interventions are discussed. PMID: 31070074 [PubMed - as supplied by publisher]
Source: Physical Therapy - Category: Physiotherapy Authors: Tags: Phys Occup Ther Pediatr Source Type: research
Conclusion: The high rate of chromosomal abnormalities found in the Moroccan patients studied demonstrates the capital importance of cytogenetic evaluation in patients who show ID or any clinical development abnormality.Hum Hered 2017/2018;83:274 –282
Source: Human Heredity - Category: Genetics & Stem Cells Source Type: research
In conclusion, we further advanced the molecular understanding of mitochondrial dysfunction in RTT. Intensified mitochondrial O2 consumption, increased mitochondrial ROS generation and disturbed redox balance in mitochondria and cytosol may represent a causal chain, which provokes dysregulated proteins, oxidative tissue damage, and contributes to neuronal network dysfunction in RTT. Introduction Rett syndrome (RTT) is a progressive neurodevelopmental disorder. It primarily affects females, who show the first obvious symptoms within 6–18 months after birth. Among the characteristics are a regression of mental ...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Conclusions &ImplicationsThe findings indicate that compared to DS, characteristics of ASD may contribute to less maternal post-crisis growth, and that social support serves as an important predictor for growth in this group. Finding ways to increase social support for mothers of children with ASD thus gains additional importance.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
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