P020A Developmental Disabilities Lecture #3 Mrs. keele Course Content # 17 • Explain the important role of genetic counseling. Genetic Counseling • Issues related to inherited disorders Prenatal testing • Ultrasound sonography – Sound waves images – Detect structural abnormalities Prenatal Testing • Amniocentesis – amniotic fluid + fetal cells Prenatal testing • Fetal Blood Sampling (FBS) – Detect chromosomal abnormalities Screening for future problems • DNA – based genetic tests Angelina Jolie fallout: Should counseling be required with DNA screenings? Jon Entine | May 28, 2013 | Genetic Literacy Project • The decision by Angelina Jolie to undergo a double mastectomy after tests determined she carried a genetic mutation that elevated her chances of developing breast or ovarian cancer has led to renewed calls for expanded genetic screening. It has also raised a disconcerting question—could genetic testing actually be harmful to your health? Some DNA-based genetic tests • Adult polycystic kidney disease • Alpha 1-antitrypsin deficiency • Alzheimer’s disease • Amyotrophic lateral sclerosis • Ataxic telangiectasia • Breast & ovarian cancer • Charcot-Marie-Tooth • Congenital adrenal hyperplasia • Cystic fibrosis • Duchenne muscular dystrophy Some DNA-based genetic tests • • • • • • • Dystonia Fragile X syndrome Gaucher disease Hemophilia Colon Cancer Huntington’s disease Myotonic dystrophy • Neurofibromatosis • Phenylketonuria • Prader Willi / Angleman syndromes • Sickel-cell disease • Spinocerebellar ataxia • Tay-Sachs disease • Thalassemias Course content #18 • Identify the various morphological features commonly seen in the D.D. client – Head & face – Eyes – Extremities Head Circumference Microcephaly • i head circumference Unusual hair whorls Normal ear Microtia • Underdeveloped pinna Microtia Microtia Hypoplastic ear Low set ear • Low set ear • hypoplastic Ear Placement Low set ears Posteriorly rotated Micrognathia • Small jaw Micrognathia • Small lower jaw Prognathia • Maxilla or mandible is forward of the skull Hydrocephaly • AKA – Water on the brain” • D/t – h CSF – h I-ICP … Scaphocephaly • Long, narrow head Eyes • Edema Dysconjugate eye movement • Eyes appear to move independently Epicanthal folds • Epicanthal fold extending above the inner canthus Ptosis • Dropping eye lid Anisocoria • Unequal pupil size Exophthalmos • Bulging eyes • D/T – edema Strabismus / heterotropia • AKA – Cross-eyes • Eyes are not aligned Setting sun Nystagmus • AKA – “Dancing eye’s” • http://upload.wikimedi a.org/wikipedia/commo ns/b/b6/Optokinetic_ny stagmus.gif Ocular Hypertelorism • h distance between the eyes Palpebral slant mongoloid slant Normal hand Crease Transverse Palmar Crease • Old term – “Simian crease” Edema of the Feet Edema of the Feet Sandal Gap Deformity • Increase gap between great and 1st toe Sandal Gap Deformity Syndactyly • Two or more digits are fused together Pes planus • AKA – “Flat foot” Talipes equinus • AKA – Club foot Pectus excavatum • AKA – Funnel chest Hypotonia Hypotonia What is this? A. Sydactyly B. Hypotonia Course Content #19 • Differentiate between the following types of abnormal cell divisions –Non-disjunctive –Crossing over –Translocation Abnormal cell division • Non-disjunctive – Failure of the chromosome to separate properly • http://www.sumanasinc.com/webco ntent/animations/content/mistakesm eiosis/mistakesmeiosis.swf Crossing-over • Not an abnormal cell division • Occurs only in – Meiosis • Allows for – Diversity Abnormal cell division • Translocation – During crossing-over part of the chromosome breaks off and attached to another chromosome Abnormal cell division • Most incompatible with life – Spontaneous abortion Course Content #20 • Describe the main features seen in the following autosomal disorders: – – – – – – Downs Syndrome Edward’s Syndrome (Trisomy 18) Patau Syndrome (Trisomy 13 – 15) Cri Du Chat Syndrome Prader-Willi Syndrome Angelman Syndrome* Autosomal Disorders Downs Syndrome Edward’s Syndrome Patau Syndrome Cri Du Chat Syndrome Prader-Willi Syndrome Angelman Syndrome* Disorder of Non-Sex Chromosome • • • • • • Down Syndrome • AKA –Trisomy 21 –Mongolism Down syndrome • Associated with –Older mothers –>35 Down Syndrome • Detected through prenatal screening Down Syndrome Common Features • Mild-severe ID Down Syndrome • Short stature Down Syndrome Common Features • Mongoloid eye slant Down Syndrome Common Features • Epicanthal Folds Down Syndrome Common Features • Brushfield spots – White or gray spots on the edge of the iris Down Syndrome Common Features • Protruding fissured tongue, open mouth Down Syndrome Common Features • Small, flattened skull Down Syndrome Common Features • Transverse palmar crease Down Syndrome Common Features • Transverse palmar crease Deceased transverse palmar Crease Down Syndrome Common Features • Short, broad hands with clinodactyly Down Syndrome Common problems • Upper respiratory infections • Cardiac abnormalities • GI/feeding problems • Speech/language difficulty • Behavior problems • Vision/hearing problems Down Syndrome Common treatments • • • • • Speech tx Special ed. Behavior mod. Corrective surgery Corrective lens / heading aids • Cardiac / resp. meds Edward’s Syndrome • AKA – Trisomy 18 • Extra chromosome 18 • Identified in 1960 Edward’s Syndrome • Incidence – 1:3000 newborns – 3 X more girls than boys – Older mother • Poor life expectancy (50% die by one week of age) Edward’s Syndrome Common Features • ID Edward’s Syndrome Common Features • • • • • • • ID Microcephaly Prominent occiput Micrognathia Ocular Hypertelorism Ptosis Low set ears Edward’s Syndrome Common features • Umbilical hernia • Undescended testes What is the medical term for an undescended testicle? A. Hypotesticularism B. Onycholysis C. Cryptorchidism D. Microtesticulation E. Prolapsed testicle Edward’s Syndrome Common features • Clenched hands; • Underdeveloped thumbs and or nails, webbing of the second and third toes • clenched hands; • underdeveloped thumbs Edward’s Syndrome • Clubfoot • Web toes Edward’s Syndrome Common problems • Hypertonia or hypotonia • Seizures • Cardiac abnormalities • Deafness • Few live beyond 1 year Edward’s Syndrome Treatment Modalities • Anti-convulsant • Supportive care Patau’s Syndrome • AKA Trisomy 13 • 1st identified – 1960 – Patau, et al. • Incidence – 1:7600 newborns Patau’s Syndrome Common Features • • • • • • Polydactly Seizures Deafness Microcephaly Midline cleft lip / palate Abnormal ears, sloping forehead • Cardiac and renal anomalies Patau’s Syndrome Common problems • Poor life expectancy Patau’s Syndrome Common treatment • Supportive care Cri du chat syndrome • AKA – Cat Cry Syndrome • Short arm of #5 chromosome undergoes partial deletion • F>M • Incidence – 1:20,000-1:50,000 • http://www.youtube.com/watch? v=TYQrzFABQHQ • CRY Cri du chat syndrome Common Features • • • • • • • High-pitched cry low birth weight Microcephaly Hypotonia Hypertelorism Cardiac defects Palpebral slant Cri du chat syndrome Common features • Micrognathia • Small head, low-set ears • Webbing of fingers or toes • Trans-palmer crease Cri du chat syndrome Common problem • Severe ID – (IQ < 50) • Sufficient verbal skills – 50% • Self care deficit Cri du chat syndrome Common treatment • Special ed. • SLP • Counseling • http://www.youtube.co m/watch?v=La1D4cNQ5 kQ • What a person can do is more important than what they can’t do. Prader-willi syndrome • 1st described 1887 • Deletion on father’s chromosome 15 • Incidence – 1:12,000-15,000 Prader-Willi Syndrome Common Features • M=F • ID – Ave IQ: 70 Prader-Willi Syndrome Common Features • Under-developed sex organs • Ineffective eating patterns Prader-Willi Syndrome-Common Problems • • • • • Obesity Hyperphagia Hypogonadism Hypotonia ID / learning disabilities • http://www.youtube.com/watch?v=Y5LhSePDvqk – In the class room Prader-Willi Syndrome-Common Treatment • • • • Behavior modification Dietary management SLP Growth hormone Angelman syndrome • AKA – Happy Puppet Syndrome • Rare • Deletion on mother’s chromosome 15 Angelman Syndrome Common Features • Small head, wide, smiling mouth • Thin upper lip, pointed chin, prominent tongue • Frequent laughter • Hand-flapping when excited Angelman Syndrome Common Problems • ID – Severe: – IQ < 50 • Disparity between receptive and expressive language Angelman Syndrome Common Problems • • • • • • Sleep disorder Jerky gait, ataxia Microcephaly Strabismus Seizures Hyperactivity Angelman Syndrome Common Treatment • Seizure control • http://www.youtube.co m/user/AngelmanSyndr • PT / OT / SLP omeFdn • Behavior mod. & special ed. • Communication devices Course Content #21 • Describe the key features associated with the following disorders of the sex chromosomes – Klinefelter’s Syndrome – XYY males – XXX females – Turner Syndrome – Fragile X Klinefelter’s Syndrome • AKA – XXY • Affects only – males • Not apparent until – puberty Klinefelter’s Syndrome-Common Features • Tall • Female-like breasts • Testicular underdevelopment • Impairment of secondary sex characteristics • ID – If any - mild Klinefelter’s Syndrome Common Problems • Frequently sterile • Learning disability • Personality disturbances • Behavior problems Klinefelter’s Syndrome Common Treatments • • • • Testosterone therapy Counseling Plastic surgery Behavior modification Turner’s Syndrome • AKA – Gonadal Dysgenesis – XO Syndrome • Affects only – Female Turner’s Syndrome Common Features • ID – Occasional – Learning disabilities • Life expectancy – normal Turner’s Syndrome Common Features • • • • • Short stature Webbed neck, Low hairline in back Low-set ears Sexual development – i ovarian function Turner’s Syndrome-Common Problems • • • • • • • Osteoporosis Constricted aorta Hypertension Kidney problems Hypothyroidism DM -2 Infertility Turner’s Syndrome Common Treatments • No cure • Hormones – GH – Estrogen XYY • AKA – 47XYY • Affects only – males • Associated with – criminals XYY Males Common Features • Physical – Normal – h growth during early childhood • Intelligence – Slightly below average XYY Males Common Problems • Physical – h physical activity – i sperm quality • Intellectual – Slightly i IQ – Learning disabilities XYY Males Common Problems • Emotional – Delayed mental maturity – Frustration – Low self-esteem – difficulty with speech – Impulsivity – aggressive & antisocial behaviors XYY Males Common Treatments • Channeling physical activity appropriately • Behavior modification • SLP • Acne treatment • Counseling XXX • Affect only –Female • AKA –Super-female XXX Females Common Features • Physical – Normal • Intellectually – If > 3X (XXXX or XXXXX) • h ID & DD • IQ 50’s XXX Females Common Problems • • • • ID i Growth ? adjustment issues ?unnoticeable XXX Females Common Treatments -special education -counseling Fragile X Syndrome • AKA – Martin-Bell Syndrome • Etiology – long arm X constricted w/protrusion “fragile site” • Affects – M>F Fragile X Syndrome Common physical Features Male • • • • • • • • • • • Large ears Long face Prominent chin Short Enlarges testes prominent forehead Flat feet Strabismus Double-jointed fingers Skeletal problems Long, soft hands Female • Less affected Fragile X Syndrome Common adaptive Problems Male • Attention deficit • Speech disturbances • Hand flapping, hand biting, autistic behaviors • Aversion to touch • ? ID – Mild – severe Female • Learning disabilities • ID – mild Fragile X Syndrome Common Treatment Individualized • Special ed. • SLP / OT • Behavioral tx Course continent #22 • Describe the key features associated with the following dominant inheritance syndromes: – – – – – – – Tuberous sclerosis Neurofibromatosis Nevoid amentia Craniostenosis Apert’s Syndrome Crouzon’s syndrome Marfa’s Syndrome Tuberous Sclerosis • AKA – Bourneville-Pringle Syndrome • Etiology – Chrom. 9 – Chrom. 16 • Results in – Tumors in many parts of body Tuberous Sclerosis Common Features • Tumors – Heart, brain, eyes, kidneys, skin, etc. • Triad: – Epilepsy – MR – adenoma sebaceum • “Butterfly” rash Tuberous Sclerosis Common Problems • Progressive seizures • Sebaceous glands are tumorous • ID – Varies severe – Learning problems Tuberous Sclerosis Common Treatment • Early intervention is key • Seizure control – Rx • Surgery? • Special education • Behavior management Neurofibromatosis Neurofibromatosis Two types: • NF 1 - AKA – Von Recklinghausen’s Disease – Chrom. 17 • NF 2 – Chrom. 22 Neurofibromatosis Common Physical Features • Café au lait spots • Skin tumors are common • CNS and PNS tumors • Diffuse freckling • Scoliosis • Neurofibromatosis with café au lait spot Neurofibromatosis Common Features • 10-33% ID Neurofibromatosis Common Problems • Tumors – Disfigurement Neurofibromatosis Common Treatment • Surgery • Symptomatic Deceased-Neurofibromatosis Nevoid amentia Craniostenosis Apert’s Syndrome • AKA – Acrocephalosyndactyly • Etiology – Gene on chrom. 10 – often assoc. with older father Apert’s Syndrome Common Features • Premature closure of cranial sutures – Cone-shaped head • Fused fingers and toe • 20-30% ID – h ICP Apert’s Syndrome-Mitten Hand Apert’s Syndrome-Sock Foot Apert’s Syndrome Common Problems • Fused digits • Malocclusion of teeth • Hearing problems – Frequent otitis • Cleft palate – Some Apert’s Syndrome Common Treatment Surgery • Cranial – multi-staged – “cranial remodeling” • • • • • separate digits Orthodontia SLP Eat tubes Counseling Apert’s Syndrome- Crouzan’s Syndrome • AKA – Craniofacial Dystosis – Similar to Apert’s, but no syndactyly Crouzan’s Syndrome Common physical Features • Premature closure of cranial bones • Exophthalmos • Hypertelorism • Malformed mouth • Beaked nose Crouzan’s Syndrome-Common Features • 0-20% have ID – mild to moderate – D/T h ICP Crouzan’s Syndrome Common Problems Hydrocephalus Hearing problems Visual problems Speech problems Crouzan’s Syndrome Common Treatment Surgery • cranial remodeling Symptoms • special education • Shunt • Orthodontia • Vision/dental care • Counseling 6) Marfan’s Syndrome • AKA – Arachnodactyly • Chrom 15 – geneFBN1 • Connective tissue disorder • Affect – heart, skeleton, blood vessels, NS, skin, lungs Marfan’s Syndrome Common Physical Features • Long, narrow face • Flat feet • Protruding or indented sternum • h length of long bones Marfan’s Syndrome Common Features • Some mild ID – • Most normal IQ • Flo Hyman Marfan’s Syndrome Common Problems • Heart problems • Scoliosis • Lens/retinal detachments • Learning problems • Self-image problems • Michael Phelps Marfan’s Syndrome-Common Treatment Symptoms • Orthotics • Vision care • Cardiac surgery • Special ed. • Counseling • Jonathan Larson