Asesoramiento genético: CHARGE Association

· CHARGE Association Contents 1 Introducción 2 Contratación 3 Review family history 4 Review medical history 5 Additional psychosocial Issues 6 Possible counseling issues - CHARGE Syndrome 7 What Is It? 8 What Are Other Manifestations? 9 What Is the Cause? 10 What Is the Prevalence? 11 What Is the Recurrence Risk? 12 What Is the Predicted Outcome? 13 What Are the Management Suggestions? 14 Is Prenatal Testing Available? 15 What Are Resources for Parents? 16 Referencias 17 Notes Introduction Contracting Find out what your concerns are Review family history Review medical history Physical exam Recommend testing options Answer any questions Review family history Review medical history Additional psychosocial Issues Having to learn a lot in a short amount of time Support system? The difficulty of raising three kids on your own with one having medical dependence. Coping strategies Does she have a home care nurse? Has she used respite care, does she know about it? Possible counseling issues - CHARGE Syndrome Heterogeneous condition (caused by the interaction of many genes) Recurrence risk for next child = 1-2% Resources for mom See fact sheet below for more details that may need to be addressed What Is It? A specific set of birth defects that are found in a single child. The letters of CHARGE represent the different anomalies that are found. C- coloboma in 80-90% (a keyhole shaped cleft in the pupil, iris, or disc) C- cranial nerve anomalies CN I - olfactory 40% CN II - optic CN VII - facial palsy 40% (usually one sided) CN VIII - sensorineural hearing loss CN IX, X - swallowing difficulties H- heart defect in 70-85% (usually a VSD, PDA, Tetralogy of Fallot, or DORV - double outlet right ventricle) Un - atresia choanae 50-60% (blockage or narrowing of the passageway that connects the nose to the throat and allows a person to breathe through their nose. Extremely dangerous because newborns are obligate nose breathers until 4-6 weeks old.) R - retardation of growth 80-90% G - genitourinary anomalies in 70-80% of males (small penis, hipospadias, undescended testicles) E - ear anomalies/deafness (80-85% have sensorineural hearing loss) What Are Other Manifestations? Feeding problems are common/swallowing difficulties Developmental delay in 100% Mental retardation from mild - profound in 80-95% Visual impairment Cleft palate in 20-30% Tracheomalcia and laryngomalcia Characteristic facial features in >50% (square face, large eyes, small nostrils, boca pequeña, facial asymmetry with or without paralysis) Usually there is not growth retardation parentally. Typically babies are born with an average weight and then linear growth starts to shift below the third percentile by 6 months of age. What Is the Cause? This is unknown, but suspected to be heterogeneous. Además, it seems that it may be a result of arrested development between days 35-45 after conception. This is based on the developmental pattern of each of the birth defects related to CHARGE. Adicionalmente, it seems that the involvement of cranial nerves IX and X cause the majority of the neurologic function of swallowing resulting in gastroesophageal reflex and aspiration pneumonia. What Is the Prevalence? 1/10,000 - 1/12,000 What Is the Recurrence Risk? Recurrence of an affected sibling with two unaffected parents = 1-2% Recurrence to an affected person is expected to be slightly increased. Until a specific gene change is determined, it is difficult to predict the recurrence risk to an affected individual. However it would not be greater than 50%. What Is the Predicted Outcome? There is a lower life expectancy in children with CHARGE syndrome because of the high risk for hospitalization and the severe involvements. The highest mortality is in the first three years of life. Studies have shown a 70% survival rate to 5 años. What Are the Management Suggestions? Ophthalmology exam Cardiac evaluation Hearing Test Placement of stents (plastic tubes) in the nasal passageway. Placement of a G-tube for feeding if reflux is severe. Is Prenatal Testing Available? The only way to diagnose CHARGE syndrome prenatally is through a Level II ultrasound looking at some specifics: Polyhydramnios Cardiac involvement Genitalia Cleft lip/palate What Are Resources for Parents? CHARGE Syndrome Foundation, Inc. 2004 Parkade Boulevard Columbia, mes 65202-3121 Teléfono: (800) 442-7604 o (573) 499-4694 Contact: Marion Norbury [1] CHARGE Syndrome: A management manual for parents. Hefner, M & Davenport, SLH. CHARGE Syndrome Foundation, Inc. 1999. References Charge diagnostic criteria: [2] CHARGE Syndrome: A management manual for parents. Hefner, M & Davenport, SLH. CHARGE Syndrome Foundation, Inc. 1999. Jones, KL. Smith's Recognizable Patterns of Human Malformation 5th Ed. 1997. Notes The information in this outline was last updated in 2000. 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