Medical
Medical conditions, health monitoring, and clinical guidance
Available Resources
Ophthalmology Pathway
Eye screening from birth, referral protocols, common conditions (squints, nystagmus, keratoconus, CVI), bifocal research and benefits, visual impairment support, and classroom modifications
Hearing and Audiology Pathway
50%+ prevalence of hearing loss, regular assessment schedule from 8 months, bone conduction hearing aids (BAHA/ADHEAR), grommets for glue ear, and specialist support services
School Nursing Referral Information
School nursing team contacts for mainstream and special schools, weight management pathways, bedwetting service for ages 5-18, and referral criteria with duty line support
Dental Information and Referral Form
Early dental assessment from age 1, specialist paediatric dentistry referrals, prevention advice on fluid thickeners and medication timing, oral health guidelines, and accessible resources for positive dental experiences
Renal and Urology
Renal and urinary tract abnormalities, UTI investigation protocols, undescended testes monitoring, and screening guidance for children with Down Syndrome
Dementia in Down Syndrome
Early-onset Alzheimer's risk, biological factors, biomarkers for detection, emerging treatments including anti-amyloid therapies, and holistic care strategies
Down Syndrome Regression Disorder
Sudden loss of skills typically between ages 10-30, symptom checklists, diagnostic challenges, treatment options including ECT and immunotherapy, and the importance of early intervention
Acute Presentations to A&E
Common emergency presentations including atypical infections, aspiration, leukaemia signs, cardiac complications, seizures, atlanto-axial instability, coeliac disease, thyroid emergencies, and regression disorders
Diabetes and Down Syndrome
Increased Type 1 diabetes risk with earlier onset, Type 2 diabetes emergence, symptom recognition challenges, self-management with insulin, and lifestyle interventions
Atlanto-Axial Instability
Red flag symptoms (neck pain, abnormal posture, reduced movement, gait deterioration), screening tests for high-risk sports, rare but important cervical spine dislocation risk, and guidance on informed sports participation
Thyroid Guidance
Annual thyroid screening from 6 months (T4, TSH, antibodies), management of mildly raised TSH, neonatal screening protocols, and interpretation flowcharts for blood test results
Neonatal Guidelines from DSMIG
Best practice guidance for neonatal care of babies with Down Syndrome from the Down Syndrome Medical Interest Group
Criteria for RSV Prophylaxis
Monthly Palivizumab injections during RSV season (October-February) for babies with significant heart abnormalities or chronic lung disease, criteria updated annually, and emerging evidence for universal DS recommendation
Infantile Spasms (IS)
Rare seizure disorder (West syndrome) in infants under 1 year, subtle symptoms requiring urgent EEG diagnosis, critical early treatment with ACTH or vigabatrin to prevent developmental delays
Neurophysiology Referral Form (EEG) and Melatonin Guidance (EEG Usage)
Age-related melatonin dosing protocol for sleep EEG testing, administered 30 minutes before appointment, with specific procedures for awake and asleep recording
Constipation, Coeliac Screening (Including HLA Typing) and Gastroenterological Complications
20-36% constipation prevalence with NICE treatment protocols, routine coeliac TTG screening every 3 years, HLA typing to identify genetic susceptibility, and management of GORD and other GI complications
Sleep & Sleep Disorders
Home oximetry screening from infancy to age 3-5, OSA management with adenotonsillectomy and hypoglossal nerve stimulation, melatonin protocols, and specialist referrals
Immune System, Infections and Immunisations
30% increased sepsis risk, prophylactic antibiotics for recurrent infections, immunology testing criteria, additional vaccines including annual flu from 6 months and PPV23 from age 2, VZV considerations for immunocompromise
Haematology Guidance
20% polycythaemia, 50% thrombocytopaenia, 5-30% TAM requiring GATA1 testing and GOSH review, 20-23% TAM progression to ML-DS, immunology referrals for lymphopenia/hypogammaglobulinaemia
Top Tips for Triaging and Treating Kids With DS
Information about triaging and treating children with Down Syndrome
Homecare and Community Paediatric Nurses
Community Children's Nursing (CCN) referral contacts across North Central London including Barnet, Camden, Islington, Haringey, Enfield, Watford and Harrow teams with operating hours and postcode-based service allocation
Down Syndrome Checklists
Suggested ages for health checks, annual GP health checks for adults from age 18-19, RCGP and DSA resources, based on AAP Committee on Genetics guidelines
Learning Disabilities Directed Enhanced Services
Information about Learning Disabilities Directed Enhanced Services