Pediatric and Adult Preventive Care in Rett Syndrome, MECP2 Duplications and Rettrelated
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1 Pediatric and Adult Preventive Care in Rett Syndrome, MECP2 Duplications and Rettrelated Disorders Jane Lane, BSN, RN University of Alabama at Birmingham Chicago, IL June 25, 2016
2 OUTLINE Finding the care you need Child and adult preventive care When to call the doctor and surgery considerations Vaccinations
3 Finding the care you need
4 Thou shalt not keep a pediatrician into adulthood Small person child As they may not have admitting privileges to adult hospital be equipped to care for adult problems know adult subspecialists understand Medicare accept your adult insurance
5 And avoid the temptation to only see the primary when there is illness So that providers may know them in a healthy state to recognize unhealthy one Screenings may detect a unknown problem
6 And remember that not all health issues are related to Rett syndrome or related disorders trust that adult providers know their business and be willing to educate them when necessary don t overwhelm them with syndrome care information if not the primary problem recognize that adult providers approach and personalities may differ from pediatricians
7 Finding a good healthcare provider Be proactive about the transition to adult care Ask other families and the pediatrician Consider your own provider Med/Peds and Nurse Practitioner options Syndrome specialists are great resource Beware of having unrealistic expectations. It s okay to educate
8 Keeping a good provider Make regular appointments and keep them Be considerate of cancelations Try to arrive on time Supply medical records Write down questions Ask for clarification if uncertain Refrain from cell phone use during appointment The Rett Syndrome Handbook 2 nd edition, Kathy Hunter, 2007
9 List of ologists Neurologist seizures, movement disorders, dystonias, sleep issues Orthopedist scoliosis, contractures, dystonia, hip dysplasia Gastroenterologist reflux, constipation, nutrition and gastrostomy eval, gallbladder eval, extreme gas Pulmonologist sleep apnea, asthma, pneumonia Cardiologist EKG interp/ prolonged QT interval Physiatrist/PMR spasticity treatment and mobility Endocrinologist diabetes, bone health, puberty abn Nephrologist kidney stones, urinary retention Urologist plumbing care Gynecologist female care The Rett Syndrome Handbook 2 nd Edition Kathy Hunter, 2007
10 PREVENTIVE CARE
11 Childhood Preventive Care Well child visits with primary care provider Dental care every 6 months or as needed Vision and hearing as indicated Vaccinations as per AAP guidelines Rett syndrome and related disorder EKG screening at diagnosis, then annually EEG screening at diagnosis, then as needed* Scoliosis screening at age 4, then as indicated Nutritional assessments including BMI Bone health by x-ray or DEXA if at risk Physical therapies and seating assessments Labs: CBC, Vitamin D, lipid profile, metabolic profile
12 Adult Preventive Care Cancer screening Skin Breast exams - Monthly at home exam; mammography Gynecological exams - Bimanual versus speculum and PAP as needed. Individualized GYN care based on need and symptoms Exam may require sedation Dental Vision and hearing
13 Adult Preventive Care Labs (minimum) CBC, vitamin D, lipid profile, metabolic profile Immunizations Per physicians recommendations Infectious disease screening Hepatitis C if high risk TB if high risk Other recommended screenings Diabetes type 2 Hypertension
14 Adult Preventive Care Rett syndrome and related disorders considerations EKG screening annually EEG as prescribed Nutritional assessments including BMI Physical therapies Bone mineralization by xray or DXA as indicated Mental health depression
15 WHEN TO CALL IN MEDICAL REINFORCEMENTS
16 Call when there is New onset fever greater than 101 Change in consciousness, activity level, fainting New onset, increase or change in type of seizures Change in limb use or appearance Reduced urine output, smelly urine Fussy, agitated, inconsolable Not eating or drinking, weight loss Prolonged vomiting or bilious vomiting Rash Easy bruising Foul (really bad!) breath
17 And when there is Change in behavior with new medication Blood from any opening Anything crawling inside or out Established menstrual cycles have stopped Distended, tender abdomen Change in bowel or bladder pattern Anything swollen and/or hot Discharge from breasts or vagina Skin breakdown at pressure points - knees, ankles elbows, tailbone
18 or when things just don t feel right
19 When to go the ER? High fever Difficulty breathing Seizure lasting more than 10 minutes Unresponsiveness Severe pain Stomach distended, hard and unremitting Limb is swollen or red ER is not a primary care clinic! The Rett Syndrome Handbook 2 nd edition, Kathy Hunter, 2007
20 Surgical considerations Pre op May require less anesthesia Propofol study* May take longer to awaken post op Breath holding associated with RTT goes away in sleep Post op and discharge Stay within your comfort zone for discharge Bleeding management Fluid management Pain management * NM Tofil et al. J Child Neurol 2006;21:
21 VACCINATIONS
22 Why should you vaccinate? Vaccinations work Used for over 50 years Save lives and decrease disease Vaccinations are safe Monitored by unbiased health agencies No credible evidence of linkage to autism Vaccinations are necessary Diseases they guard against are deadly
23 Why should you not vaccinate? NO REASON Research has proven that vaccines do not cause autism Talk over your concerns with a trusted medical person Special considerations No live virus vaccines with cancer, oral or injected steroid use, or immune deficiency May delay pertussis part of DTaP with recent history of seizures
24 Wakefield s paper
25 Parents responsibilities about vaccine decisions To make INFORMED decisions Be responsible to those vulnerable Listen with a discriminating ear to those you trust and who understand the science not to the sensational media not to those who will gain personally not to someone who doesn t understand the science
26 Providers responsibilities Provide accurate information about vaccines and the diseases they are preventing Provide accurate information about risks of vaccinating versus not vaccinating Give you the opportunity to ask questions about your concerns
27 QUESTIONS?
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X 2012 US CENTER FOR SPORTS MEDICINE DR. COREY G. SOLMAN, JR. [PREPARING FOR TOTAL HIP REPLACEMENT: IMPORTANT INSIGHT FOR PATIENTS] Information regarding the expectations before, during and after surgery
PAGE 1. Your Kidney Stone Treatment Information for Patients
PAGE 1 Your Kidney Stone Treatment Information for Patients PAG E 2 Welcome to the New Zealand Mobile Lithotripsy Bus PAGE 3 Our customised lithotripsy bus has been a common sight on New Zealand roads