ROUTINE SURVEILLANCE FOR INDIVIDUALS WITH DOWN SYNDROME

Transcription

1 ROUTINE SURVEILLANCE FOR INDIVIDUALS WITH DOWN SYNDROME NEONATAL (Birth - 1 Month) Review parental concerns. Chromosomal karyotype; genetic counseling, if necessary. If vomiting or absence of stools, check for gastrointestinal tract blockage (duodenal web or atresia or Hirschsprung disease). Evaluation by a pediatric cardiologist including echocardiogram. Subacute bacterial endocarditis prophylaxis (SBE), in susceptible children with cardiac disease. Exam for plethora, thrombocytopenia. Review feeding history to ensure adequate caloric intake. Thyroid function test - check on results of statemandated screening at birth. Auditory brainstem response (ABR) or otoacoustic emission (OAE) test to assess congenital sensorineural hearing loss (at birth or 3 months). Pediatric ophthalmological evaluation (by 6 months) for screening purposes Discuss value of early intervention (infant stimulation) and refer for enrollment in local program. Refer to local Down syndrome parent group or family support and resources, as indicated. Referral to NDSS. INFANT (1-12 MONTHS) General neurological, neuromotor and musculoskeletal examination Verify results of newborn thyroid function screen. TSH and T4-Thyroid Function Test (6 and 12 months) Obtain hemoglobin concentration beginning at 1 year of age and annually thereafter, if indicated Evaluation by pediatric cardiologist including echocardiogram (if not done at birth) Monitor for signs of neurologic dysfunction Consider progressive pulmonary hypertension if VSD or atrioventricular septal defect and little or no symptoms of heart failure Subacute bacterial endocarditis prophylaxis (SBE) as indicated) Administer immunizations including influenza vaccine and others recommended for all children, unless there are specific contraindication Feeding consult, especially if constipated. Consider Hirschsprung disease. Auditory brainstem response (ABR) or otoacoustic emission (OAE) test to assess congenital sensorineural hearing (by 3 months if not already or if suspicious) Ear, nose and throat exam (as needed), especially if suspicious of otitis media Well-balanced, high-fiber diet Within 1st 6 months refer to pediatric ophthalmologist or ophthalmologist with expertise and experience with infants with disabilities Discuss early intervention and refer for enrollment in local program Application for Supplemental Security Income (SSI), depending on family income Consider estate planning and custody arrangements; continue family support

2 ROUTINE SURVEILLANCE FOR INDIVIDUALS WITH DOWN SYNDROME CHILDHOOD (1-5 YEARS) TSH and T4 - Thyroid Function Test (annual) Obtain hemoglobin concentration annually. Also, obtain ferritin and CRP concentrations for any child at risk for iron deficiency Echocardiogram by a pediatric cardiologist if not done previously. For a child who passed diagnostic hearing testing, additional screening or behavioral audiogram and tympanometry every 6 months until normal hearing established. Subsequently, behavioral hearing tests annually Pediatric and neurological exam with evaluation for spinal cord compression: deep tendon reflexes, gait, Babinski sign Contact physician for change in gait or use of arms and hands, change in bowel or bladder function, neck pain, stiff neck, head tilt, torticollis (new onset), abnormal head positioning, change in general function or weakness Use Down Syndrome Growth Charts and head circumference charts with others. Eye examination (annually, or as indicated). Review for symptoms potentially related to celiac disease including diarrhea or protracted constipation, slow growth, unexplained failure to thrive, anemia, abdominal pain or bloating, or refractory developmental or behavioral problems For those with symptoms obtain a tissue transglutaminase IgA level and simultaneous quantitative IgA Question about obstructive sleep apnea (heavy breathing, snorting, restless sleep, uncommon sleep positions, frequent night awakening, daytime sleepiness, apneic pauses, behavior problems); ENT exam (as needed) Referral to a pediatric sleep lab for a sleep study or polysomnogram by age 4 years Dental exam (2 years; follow up exams every 6 months after). Twice daily brushing. Reinforce need for subacute bacterial endocarditis prophylaxis (SBE) for cardiac problems (as indicated). Brief vulvar exam for girls Well child care: immunizations; pneumococcal vaccine (2 years). Evaluation by speech/language pathologist. CHILDHOOD (5-13 YEARS) TSH and T4 - Thyroid Function Test (annual). Echocardiogram by a pediatric cardiologist if not done previously. Obtain annual ear-specific audiologic evaluation Obtain ophthalmologic evaluation every 2 years Obtain hemoglobin concentration annually and serum ferritin and CRP or reticulocyte count at annual visits for any child at risk of iron deficiency on the basis of history of decreased iron intake Pediatric and neurological exam with evaluation for spinal cord compression: deep tendon reflexes, gait, Babinski sign Contact physician for change in gait or use of arms and hands, change in bowel or bladder function, neck pain, stiff neck, head tilt, torticollis (new onset), abnormal head positioning, change in general function or weakness Universal precautions for protection of the cervical spine during any anesthetic, surgical or radiographic procedure Monitor growth patterns, especially BMI, and emphasize healthy Review for symptoms potentially related to celiac disease including diarrhea or protracted constipation, slow growth, unexplained failure to thrive, anemia, abdominal pain or bloating, or refractory developmental or behavioral problems For those with symptoms obtain a tissue transglutaminase IgA level and simultaneous quantitative IgA Question about obstructive sleep apnea (heavy breathing, snorting, restless sleep, uncommon sleep positions, frequent night awakening, daytime sleepiness, apneic pauses, behavior problems); ENT exam (as needed) Referral to a pediatric sleep lab for a sleep study or polysomnogram by age 4 years Dental exam (2 years; follow up exams every 6 months after). Twice daily brushing. Reinforce need for subacute bacterial endocarditis prophylaxis (SBE) for cardiac problems (as indicated). Brief vulvar exam for girls Well child care: immunizations; pneumococcal vaccine (2 years). Evaluation by speech/language pathologist.

3 ROUTINE SURVEILLANCE FOR INDIVIDUALS WITH DOWN SYNDROME CHILDHOOD (13-21 YEARS) Measure TSH concentration annually Individualize cardiology follow-up based on cardiac defects Obtain annual ear-specific audiologic evaluation Obtain ophthalmologic evaluation every 3 years Measure hemoglobin concentration annually Pediatric and neurological exam with evaluation for spinal cord compression: deep tendon reflexes, gait, Babinski sign Contact physician for change in gait or use of arms and hands, change in bowel or bladder function, neck pain, stiff neck, head tilt, torticollis (new onset), abnormal head positioning, change in general function or weakness Universal precautions for protection of the cervical spine during any anesthetic, surgical or radiographic procedure Monitor growth patterns, especially BMI, and emphasize healthy Review for symptoms potentially related to celiac disease including diarrhea or protracted constipation, slow growth, unexplained failure to thrive, anemia, abdominal pain or bloating, or refractory developmental or behavioral problems For those with symptoms obtain a tissue transglutaminase IgA level and simultaneous quantitative IgA Question about obstructive sleep apnea (heavy breathing, snorting, restless sleep, uncommon sleep positions, frequent night awakening, daytime sleepiness, apneic pauses, behavior problems); ENT exam (as needed) Referral to a pediatric sleep lab for a sleep study or polysomnogram if not done previously Dental exam (2 years; follow up exams every 6 months after). Twice daily brushing. Reinforce need for subacute bacterial endocarditis prophylaxis (SBE) for cardiac problems (as indicated). Brief vulvar exam for girls Well child care: immunizations; pneumococcal vaccine (2 years). Evaluation by speech/language pathologist. REFERENCE: Bull, MJ.: Health Supervision for children with Down Syndrome. Pediatrics Aug; 128(2): Erratum in Pediatrics Dec;128(6):1212

4 TURNER SYNDROME (TS) SURVEILLANCE GUIDELINES Screening at Diagnosis of TS in children and adults All patients Cardiovascular evaluation by specialist Renal ultrasound Hearing evaluation by an audiologist Evaluation for scoliosis/kyphosis Evaluation for knowledge of TS; referral to support groups Evaluation for growth and pubertal development Ages 0-4 yr Evaluation for hip dislocation Eye exam by pediatric ophthalmologist (if age >1) Ages 4-10 yr Thyroid function tests (T4, TSH) and celiac screen (TTG Ab) Educatinal/psychosocial evaluations Orthodontic evaluation (if age >7) Age >10 Thyroid function tests and celiac screen Educational and psychosocial evaluations Orthodontic evaluation Evaluation of ovarian function/estrogen replacement LFTs, FBG, lipids, CBC, BUN, Cr BMD (if age >18 yr) BUN, Blood urea nitrogen; CBC, complete blood count; Cr, creatinine; FBG, fasting blood glucose; LFTs, Liver function tests Ongoing Monitoring in TS All ages Cardiology evaluation as indicated Blood pressure annually ENT and audiology every 1-5 years <5 yr Social skills at age 4-5 yr School age Liver and thyroid screening annually Celiac screen every 2-5 years Educational and social progress annually Dental and orthodontic evaluations, as needed Older girls and adults Fasting lipids and blood sugar annually Liver and thyroid screening annually Celiac screen as indicated Age-appropriate evaluation of pubertal development and psychosexual adjustment

5 Cardiovascular Screening and Monitoring for Girls and Women with TS Screening ALL patients at time of diagnosis Evaluation by cardiologist with expertise in congenital hear disease Comprehensive exam including blood pressure in all extremities All require clear imaging of the heart, aortic valve, aortic arch and pulmonary veins Echocardiography is usually adequate for infants and young girls MRI and echo for older girls and adults EKG Follow-up monitoring depends on clinical status For patients with apparently normal cardiovascular system and age-appropriate blood pressure Reevaluation with imaging at timely occasions, e.g. at transition to adult clinic, before attempting pregnancy, or with appearance of hypertension. Girls that have had only echocardiography should undergo MRI when old enough to cooperate with the procedure Otherwise, imaging about every 5-10 years For patients with cardiovascular pathology, treatment and monitoring determined by cardiologist REFERENCE Bondy, C. Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007, 92(1):10-25

6 2010 REVISED GHENT NOSOLOGY: MARFAN SYNDROME DIAGNOSTIC CRITERIA IN THE ABSENCE OF FAMILY HISTORY: 1. Ao (Z>2) AND EL = MFS* 2. Ao (Z>2) AND FBN1 = MFS 3. Ao (Z>2) AND Syst (>7 points) = MFS* 4. EL AND FBN1 with known Ao = MFS EL with or without Syst AND with an FBN1 not known with Ao or no FBN1 = ELS Ao (Z<2) AND Syst (>5 with at least 1 skeletal feature) WITHOUT EL = MASS MVP AND Ao (Z<2) AND Sys (<5) WITHOUT EL = MVPS IN THE PRESENCE OF FAMILY HISTORY: 5. EL AND FH of MFS (as defined above) = MFS 6. Syst (> 7 points) AND FH of MFS = MFS* 7. Ao (Z>2 above 20 years old, >3 below 20 years) + FH of MFS = MFS* *Caveat: without discriminating features of SGS, LDS or veds (as defined in table 1) AND after TGFBR1/2, collagen biochemistry, COL3A1 testing if indicated. Other conditions/genes will emerge with time. SPECIAL CONSIDERATIONS IN INDIVIDUALS <20 YEARS: SUGGESTED TERMINOLOGY until aortic root measurement significant (Z>3) If systemic features insufficient (score <7) and/or borderline aortic root measurement (Z<3), without FBN1 mutation NONSPECIFIC CONNECTIVE TISSUE DISORDER If FBN1 mutation identified in sporadic or familial case but aortic root measurements still Z<3 POTENTIAL MFS ABBREVIATIONS: Ao: aortic diameter at the sinuses of Valsalva above indicated Z-score or aortic root dissection EL: ectopia lentis ELS: ectopia lentis syndrome FBN1: fibrillin-1 mutation (as defined in box 3) FBN1 not known with Ao: FBN1 mutation that has not previously been associated with aortic root aneurysm/dissection FBN1 with known Ao: FBN1 mutation that has been identified in an individual with aortic aneurysm MASS: myopia, mitral valve prolapse, borderline (Z<2) aortic root dilatation, striae, skeletal findings phenotype MFS: Marfan Syndrome MVPS: mitral valve prolapse syndrome Syst: systemic score (see box 2) Z: Z-score

7 SCORING OF SYSTEMIC FEATURES SCORING OF SYSTEMIC FEATURES FOR POSSIBLE MARFAN SYNDROME Patient Score Wrist AND Thumb sign 3 Wrist OR Thumb sign 1 Pectus carinatum deformity 2 Pectus excavatum or chest asymmetry 1 Hindfoot deformity 2 Plain pes planus 1 Pneumothorax 2 Dural ectasia 2 Protrusio acetabuli 2 Reduced US/LS AND Increased arm/height AND no severe scoliosis 1 Scoliosis or thoracolumbar kyphosis 1 Reduced elbow extension 1 Facial features (3/5) - dolichocephaly, enophthalmos, downslanting PFs, malar 1 hypoplasia, retrognathia Skin striae 1 Myopia >3 diopters 1 Mitral valve prolapse (all types) 1 Maximum total: 20 points TOTAL /20 Score >7 indicates systemic involvement Arm span/height: (significant if >1.05 for adults) Upper segment/lower segment: (significant if <0.95 for age 6-7 years; <0.9 for 8-9 years; <0.85 above 10 years) REFERENCE: Loeys BL et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet Jul;47(7):476-85