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Management of Disability & Down Syndrome

Management of Disability & Down Syndrome. Presented by Dr Joan Murphy Department of Paediatrics, TCD, 2009. Introduction. Aims Definition of disability Definition of child groups Family centred care of child Key to care of child in hospital setting Definition of Down syndrome

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Management of Disability & Down Syndrome

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  1. Management of Disability & Down Syndrome Presented by Dr Joan Murphy Department of Paediatrics, TCD, 2009

  2. Introduction Aims • Definition of disability • Definition of child groups • Family centred care of child • Key to care of child in hospital setting • Definition of Down syndrome • Treatable medial problems • Medical Management in DS • Think about all the Possibilities Dr. J. Murphy, Paediatrics, TCD

  3. Definitions of Disability • Disorder • Impairment • Disability • Handicap Dr. J. Murphy, Paediatrics, TCD

  4. Definitions of Disability (WHO 2001) • Mental impairment and learning disability • Intellectual impairment • Mild / moderate / severe / profound • (IQ levels 50-69/35-49/20-34/>20) WHO 2001 Mental Health • Learning disability • Denotes the presence of lower than normal intelligence (IQ) (review for genetic association – ? syndrome) • Specific Learning disability • Low intelligence/normal intelligence/high intelligence • ‘dyslexia’ (reading/writing/maths/ comprehension) • Developmental Coordination Disorder (DCD) Dr. J. Murphy, Paediatrics, TCD

  5. Children with Disability • Physical/ Sensory/Cognitive/Social • Attention Deficit Hyperactivity Disorder (ADHD) • Autism • Cerebral Palsy • Down syndrome • Visually/Hearing impaired • Unlabelled (fine motor/gross motor) Dr. J. Murphy, Paediatrics, TCD

  6. Key to Care of Child in Hospital • Age of child • Trust • Family centred care • Commitment • Involvement • Time Dr. J. Murphy, Paediatrics, TCD

  7. Child Groups Definition • Infancy (learning to trust/ vital bonding) • Toddler ( ability to control their bodies) • Early childhood (strong imagination) • Middle childhood ( sense of competence) • Adolescence (rapid physical and emotional changes ) Greatest risk by hospitalization Dr. J. Murphy, Paediatrics, TCD

  8. Family Centred Care based on principles • Make Rights and well being of child your priority • View Parents key to child’s health & well being • View parents as experts for their child • Support parents as individuals • Facilitate access to supports • Build on what is there • Develop a partnership approach • Work on interagency & interdepartmental basis • Plan in a locally responsive way Dr. J. Murphy, Paediatrics, TCD

  9. How to make it work • Trust • Past experiences – borrow everyone's “Tricks of the Trade” • Games (age/ability appropriate) • Flexibility (each child is an individual) • Choice (limit them to two) • Parents (collaboration) • Child (centre of the paediatric practice) Dr. J. Murphy, Paediatrics, TCD

  10. Health Problems in Disabilities •  Respiratory diseases • Hearing loss - 40% fail to get treatment •  Vision problems •  GI problems •  Epilepsy / skin •  Joint / Mobility •  50% Mental Health •  Screening • No dedicated Guidelines for all disabilities Dr. J. Murphy, Paediatrics, TCD

  11. Working in a Paediatric arena • Communication • verbal/ signing/ writing/ none? • Consent • Sedation - suitability / previous experience • Psychosocial impacts • Child • Family • Recovery & Many Future visits Dr. J. Murphy, Paediatrics, TCD

  12. Care of a Patient with Disability • Informed consent * • Parent(s) Child/Adolescent • Community liaison Nurse/ RMHN • Pre-admission Plan • Liaison with Patient and Carer • Patients community supports • Primary Care Team • Community Special Services Team • *(Guidelines in relation to Obtaining Consent AMNCH – Version 1/Reviewed Sept 2006 - see appendices page 34) Dr. J. Murphy, Paediatrics, TCD

  13. Care of a Patient with Disability • Admission • Assess need - additional healthcare resources • Ensure family/carer involvement at level they desire • Ensure Good Communication between all parties • Care Delivered: according to Care Plan and hospital / community protocols Dr. J. Murphy, Paediatrics, TCD

  14. Care of a Patient with Disability • Medications(?Special attention) • Preparation • Times • Method of administration • Tailored to individual patient’s needs Dr. J. Murphy, Paediatrics, TCD

  15. Care of a Patient with Disability • Discharge Plan • Patient with disability - complex discharge planning needs • Discuss at time of admission • Ensure involvement of • Patient/Family/Carers/Primary care team • Community Special needs • Discuss appropriate referrals • Clinical Psychology • Speech Therapy • Occupational Therapy/ Physiotherapy • Independent living • Community Health / GP/ Public Health Nurse/ Sp services • Contact name and telephone number Dr. J. Murphy, Paediatrics, TCD

  16. Delivering the news “…and it’s not just a sentence, every word is important because you are hanging on to everything they say and you will remember every word that they say, it sticks in your mind. They need to really plan their sentences and their words because this is going to stay with you for the rest of your life.” Parent, Informing Families Focus Groups Dr. J. Murphy, Paediatrics, TCD

  17. Informing Families “ It’s the toughest part of the job really. When you have experience you will prioritise this, because it’s a big priority, because it’s something that parents remember” Consultant Paediatrician Informing Families Focus Groups Dr. J. Murphy, Paediatrics, TCD

  18. Informing Families of their Child’s Disability National Best Practice Guidelines Guiding Principles Best Practice Recommendations National Federation of Voluntary Bodies www.fedvol.ie Dr. J. Murphy, Paediatrics, TCD

  19. What is Down Syndrome? • A common condition • Characteristic features (120) • Always some degree of learning disability • Dr. John Langdon Down (London)1866 • Prof Jerome Lejeune (Paris)1959 • Present at birth • Parents of all ages • All social and educational levels • All ethnic groups • Unknown Cause • No cure and cannot be prevented Dr. J. Murphy, Paediatrics, TCD

  20. Down Syndrome Chromosomal Karyotype Dr. J. Murphy, Paediatrics, TCD

  21. Types of Down Syndrome Types of Down Syndrome • Trisomy 21(95%) • Three chromosomes 21 in every cell • Translocation(3-5%) • Extra part of chromosome 21 attaches to another chromosome in every cell • Mosaic 1-2 % • Mixture of cells, some with an extra chromosome 21 and others with just two. Dr. J. Murphy, Paediatrics, TCD

  22. Epidemiology of Down Syndrome • Incidence 1/546 live births (Eurocat 1990) Maternal Age Risk 15-191 in 1,841 20-241 in 1,554 25-291 in 1,033 30-341 in 657 35-391 in 232 40-441 in 73 45+1 in 26 "The Epidemiology of Down Syndrome in the Four counties of Ireland 1981-1990" Z. Johnson et al ‘Journal of Public Health Medicine’ Vol. 18, No. 1, pp.78-86. c Oxford University Press. • Only 35% pregnancies survive to term (Oxford) • Prevalence of DS in Co GalwayO’Nuallain et alIMJ 2007;100:1:329-331 1/373 live births over 20 year period 1981-2000 Retrospective study Dr. J. Murphy, Paediatrics, TCD

  23. Life Expectancy • Life expectancy • Survival rate from < 60% - > 95% at 1 year of age (Hayes C., Johnson Z., 1997) • Birth Rate • 1 in 547 live births (Eurocat) • Population in Ireland • 3,559persons with Down Syndrome ROI (1981 census of Mental Handicap Mulcahy M., l985) • 24% of all persons with learning disability Dr. J. Murphy, Paediatrics, TCD

  24. Some Clinical Features • Low muscle tone • Head small / Neck short • Upward slant to the eyes • Wide nasal bridge • Abnormal shape of the ears • A single palmar crease with incurved little finger • Excessive ability to extend the joints • Sandal gap between 1st and 2nd toes • Upper & Lower Jaw usually smaller • Tongue average size • more difficult to hold in smaller cavity Dr. J. Murphy, Paediatrics, TCD

  25. Increased Medical Problems • Most significant features – for medical care and management • Cardiac • Growth • Thyroid disorders - Diabetes • Gastrointestinal Tract • Hearing impairment • Visual impairment • Orthopaedic -CERVICAL SPINE INSTABILITY • Sleep Obstructive Apnoea • Speech and Language • Epilepsy • Leukaemia • Klinefelter syndrome • Alzheimer’s Disease Dr. J. Murphy, Paediatrics, TCD

  26. Cardiac defects (n=394) Cardiac anomalies = 45.7 % • 61 (15.5%) Innocent heart murmur • 52 (13.2%) AVSD (Atrioventricular Septal Defect) • 23 (5.9%) ASD (Atrial Septal Defect) • 21 (5.3%) VSD (Ventricular Septal Defect) • 19 (4.8%) PDA (Patent Ductus Arteriosus) • 9 (2.3%) ASD VSD • 4 (1.0%) PDA VSD • 4 (1.0%) Pulmonary Hypertension (Monitoring Children & Adolescents with Down Syndrome 1999 Murphy Joan, Philip M., Meehan J., Harper J., Maine P., McShane D., O’Regan M.., Macken S., Roche E., Hoey HMCV) Dr. J. Murphy, Paediatrics, TCD

  27. Growth • Height • 2 SD below general Irish population • Weight • general Irish population • Head Circumference • 2 SD below generalIrish population • BMI • increased • Age of Menarche • general Irish population (range 9-15 years) Dr. J. Murphy, Paediatrics, TCD

  28. Weight Results Age < 10 years Overweight (%) Obesity (%) Girls (n=88) 18 (20) 15 (17) Boys (n=118) 22 (19) 25 (21) Age > 10 years Overweight (%) Obesity (%) Girls (n=86) 14 (16) 27 (31) Boys (n=89) 14 (16) 28 (31) Dr. J. Murphy, Paediatrics, TCD

  29. Puberty in Girls Age of onset of Menarche Mean age 12.6 yrs < general Irish population Age of Menarche(Range 9 - 13.5 yrs) Dr. J. Murphy, Paediatrics, TCD

  30. Menstruation in DS • Regular menstruation 76% • Average cycle (days) 28 • Ovulatory Cycles 88.5% (Scola, Peuschel 1992) Dr. J. Murphy, Paediatrics, TCD

  31. Thyroid Disease in DS • Clinical features hypothyroidism • lethargy ) • developmental delay ) • poor height ) overlap with clinical • weight ) features of DS • constipation ) • depression/dementia) • Clinical diagnosis unreliable Dr. J. Murphy, Paediatrics, TCD

  32. Thyroid Disease in DS • Increased frequency DS • 0.7% neonates / 16.4% school children/ 22% adults • Most common abnormality is hypothyroidism • Both congenital and acquired • Prevalence of thyroid disease increases with age • Clinical features of DS can mask the presenting signs and symptoms of hypothyroidism • Biochemical screening for the presence of thyroid disease in DS is necessary • Undiagnosed hypothyroidism may result in • preventable secondary handicap Dr. J. Murphy, Paediatrics, TCD

  33. Gastrointestinal Tract • Embryological and structural • Anorectal (imperforate or stenosis) 10% • Duodenal or jejunal (atresia or stenosis) • Hirschsprung Disease 2% (50% present after age 1 month) • Motility and co-ordination • Feeding difficulties • Constipation • Toddler diarrhoea • Gastro-oesophageal reflux (GOR) • Gall stones • Autoimmune • Coeliac disease 4-17% • Hepatitis Dr. J. Murphy, Paediatrics, TCD

  34. Supporting Feeding & Oral Development in Young Children Guidelines for Parents Booklet is intended as a ref 1st 2 to 3 yrs Not expected to read it - cover to cover Dip in & out of it as questions arise Need guidance regarding baby’s next steps It is not intended to replace direct contact with multidisciplinary team Dr. J. Murphy, Paediatrics, TCD

  35. ISBN 1-890627-23-2 Dr. J. Murphy, Paediatrics, TCD

  36. Hearing problems in DS • 60-85% mild to mod conductive hearing loss • Sensorineural hearing loss 10-15% • Mixed hearing loss • Progressive in nature • Social isolation and behavioural difficulties • May be misinterpreted as depression or dementia in adults Dr. J. Murphy, Paediatrics, TCD

  37. HEARING IMPAIRMENT • Conductive Hearing impairment (CHL) • Sensory Neural Hearing Loss (SNHL) • Mixed Hearing Loss (CHL+SNHL) Dr. J. Murphy, Paediatrics, TCD

  38. Free on Web www.ndcs.org.uk Dr. J. Murphy, Paediatrics, TCD

  39. Visual problems • Common in DS >50% require glasses • Refractive errors • Strabismus • Cataract • Glaucoma • Keratoconus • In older patient – high myopia(near sightedness) • Early diagnoses and treatment Prevents Unnecessary secondary handicap Dr. J. Murphy, Paediatrics, TCD

  40. Orthopaedic problems • Reduced muscle tone and laxity in ligaments • Abnormal skeletal development • Cervical spine instability (1%) • Subluxation of elbow joint (0.3%) • Patella instability (1.5%) • Scoliosis (0.8%) • Subluxation hip joints (1.8%) • Flat feet (63%) Dr. J. Murphy, Paediatrics, TCD

  41. Dr. J. Murphy, Paediatrics, TCD

  42. Atlantoaxial Instability • Normal • Abnormal • The odontoid occupies the safe zone of steel Dr. J. Murphy, Paediatrics, TCD

  43. Cervical spine instability Signs & Symptoms • Pain behind the ear or elsewhere in the neck • Abnormal head posture • Torticollis • Deterioration of gait/ manipulative skills • Reduced bowel and/or bladder control REFER IMMEDIATELY Dr. J. Murphy, Paediatrics, TCD

  44. Speech & Language Problems • Speech impairment common • Receptive lanquage skills increased • Expressive language skills decreased • Linguistic area easier (vocabulary) • Grammar more difficult • No speech and Language problems unique to children with DS. • Linked to hearing impairment (otitis media with effusion, or fluid in the middle ear without signs or symptoms of ear infection) Dr. J. Murphy, Paediatrics, TCD

  45. Epilepsy in Down Syndrome • Why do people with DS develop Epilepsy? • Brains are smaller and more spherical • Hypoplasia of frontal and temporal lobes • Microscopic: altered structure of cerebral cortex • Frequency • Down syndrome 5-10% • General population 0.5-1% • Types of epilepsy • Infantile Epilepsy (< 1 year age) • Late Epilepsy (grand mal 8-10%) • Reflex Epilepsy (fits triggered by startle reaction) Dr. J. Murphy, Paediatrics, TCD

  46. Practical management Epilepsy • Knowledge  anxieties  confidence • Treatment – common standards • Respect risks (traffic, water) • No unnecessary restrictions • Normally a favourable prognosis Dr. J. Murphy, Paediatrics, TCD

  47. Leukaemia in DS • Newborns – Transient leukaemia • Condition resembles leukaemia but disappears on its own without treatment in a few weeks or months • ? Increased of developing leukaemia in later life • Acute Myelocytic Leukaemia – common in first 3 years of life • Acute Lymphocytic Leukaemia – after age 3 yrs • Treatment of AML – children with DS respond better than children without DS • Treatment of ALL – response rate appears to be equal • Of those with DS who develop Leukaemia • 80% ALL and 20% AML Dr. J. Murphy, Paediatrics, TCD

  48. Klinefelter syndrome in DS • Boys with DS have an extra X chromosome (1/100) • Relatively small testes • Will not undergo normal body development during adolescence • Infertility • May require treatment with male sex hormone to develop the normal physical changes of puberty Dr. J. Murphy, Paediatrics, TCD

  49. Management in DS • Provide Accurate information • Breaking the news/diagnosis • Say this in a positive way • Remember Your first words to a family have a Lifelong Impact • Be the first step on the ladder to help them achieve the positive adjustments needed in their lives • Focus on what can be done Dr. J. Murphy, Paediatrics, TCD

  50. How You can Help • Always use the child’s name • Look at Mam and Dad when communicating • Empathy - Try to understand what it means to have a child with Down syndrome or any disability • Listen to and learn from parents Dr. J. Murphy, Paediatrics, TCD

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