@22Q11_Ireland
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Parent group raising awareness of #22q Working toward integrated care for 22qDS & individually rare collectively common #RareDiseases. Tweets AnneL CHY 17647
Ireland
Joined July 2013
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- Following4.5K
- Followers4.7K
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#Team22q won the HSE Excellence Award for demonstrating that parental liaison and putting young people at the centre of their healthcare decision is having positive outcomes for people living with rare disease.
Watch a video about the project here:
childrenshealthireland.ie/ne…
MTHFR gene - located on the short (p) arm of chromosome 1 at position 1p36.3
#ThinkGenetics
"In the early-onset group, all patients had varying degrees of neurodevelopmental delay" link.springer.com/article/10… N=19. Clinical spectrum & genetic landscape of MTHFR deficiency. Autism(s) relevant too pubmed.ncbi.nlm.nih.gov/3297… Probably should be screened for when autism diagnosed.
22Q11 Ireland retweeted
💜 Your experience matters. Your voice can change care.💜
What does good care look like when living with a rare disease?
We want to hear from rare disease patients & caregivers in Ireland. Share your experience in our anonymous ~20-min PREM survey.
🔗healthandagriscience.fra1.qu…
Children with chronic constipation often cycle through ED with invasive treatment that doesn't fix the problem.
A rapid-access nurse-led pathway cut admissions from 19% to 10% and invasive procedures by 59% — saving £106k too.
Read more: bit.ly/4xsDfaD
ALT Outcome of invasive procedures 10 months before and 10 months after the introduction of the ED bladder and bowel service pathway. QIP, quality improvement project.
22Q11 Ireland retweeted
Are we diagnosing too many people with ADHD? spectator.com/article/are-we… Wrong question. There shouldn't be 'an ADHD assessment' or related but a more holistic 'neurodevelopmental assessment' covering lots of different potential conditions. See the ICD-11 'boundary' data for ideas.
22Q11 Ireland retweeted
adc.bmj.com/content/early/20… Increading #complexity and proportion of Life limiting conditions in kids #PedsICU @ADC_BMJ
22Q11 Ireland retweeted
Newborn screening has transformed child health, but expanding screening panels will require strong evidence, sustained policy support, and continued investment in rare disease research. bit.ly/3UVCxFq #GIMO #NewbornScreening #GenomicNewbornScreening
22Q11 Ireland retweeted
The National Rare Disease Office (#NRDO) is seeking Expression of Interest for Patient Partners to participate in implementation of the National Rare Disease Strategy.
- People living with a rare disease
- Family members/carers of PLWRD
Apply here
🔗 smartsurvey.co.uk/t/EOIPatie…
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10-year study of atypical prenatal cfDNA screens found that 50% of follow-up cases had abnormal findings most often CNVs, aneuploidy, maternal X chromosome mosaicism or maternal diagnosis, highlighting need for targeted follow-up bit.ly/4xjI8mw
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"On top of that, genetic and developmental differences across people mean there is no “single human brain,” Arlotta explained." hms.harvard.edu/news/harvard…
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Nutritional Problems in Neurodevelopmental Disorders: A Narrative Review pubmed.ncbi.nlm.nih.gov/4269… And said nutritional problems can lead down some really dark paths e.g. scurvy. And scurvy can kill e.g. theguardian.com/australia-ne…
A truly mind-blowing 3.4 days diagnostic turnaround!
Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients | Nature Medicine share.google/CQtZiBwLBsFLzvm…
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A fantastic opportunity to listen and learn from the professionals in a non clinical environment. Great speakers with vast experience and knowledge. Well done UHW for organising.
Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder | American Journal of Psychiatry
#ThinkGenetics
#CNVs
share.google/GBEvBVtsyWVyThI…
"These CNVs have been strongly implicated in neurodevelopmental disorders, namely autism spectrum disorder (ASD), intellectual disability (ID), and developmental delay (DD), but also in schizophrenia."
@PaulWhiteleyPhD
The contribution of copy number variants to psychiatric symptoms and cognitive ability. #ThinkGenetics
pmc.ncbi.nlm.nih.gov/article…
The contribution of copy number variants to psychiatric symptoms and cognitive ability. #ThinkGenetics
pmc.ncbi.nlm.nih.gov/article…
Since moving to Waterford 3yrs ago we've had one brief inpatient stay and several out patient apts with various specialities in Waterford Hosp
There today & met another ENT clinician Dr. Aymin from Sudan, another lovely member of staff.
Thanks for the great care @UHW_Waterford
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"An ADHD diagnosis should never be based solely on questionnaires. It requires a comprehensive clinical assessment that considers differential diagnoses, co-occurring conditions and an individual’s wider circumstances" rcpsych.ac.uk/news-and-featu… Applies to other labels too (autism).
Genetics of PANS/PANDAS - ScienceDirect
"..findings also suggest that specific genetic subgroups of ASD cases are at increased risk of developing neuropsychiatric decompensation following infections" share.google/pdj5vQDqt4SCNxT…
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Looking back at 8 days of #Fleadh in Belfast in less than a minute.
22Q11 Ireland retweeted
💜Living with #RareDisease? Caring for someone who is?
📣Complete the Rare Disease PREM questionnaire
Existing questionnaires weren't designed for rare diseases. With your help we can create one that centres on you. #LivedExperience #PatientVoice
👉healthandagriscience.fra1.qu…
