Rett Syndrome (RTT) PDF

RETT SYNDROME (RTT) PTY 224 Lec. 4.1. Prepared by Dragana Djuric OUTLINE ▪ Definition, sign &symptoms ▪ Diagnoses RETT SYNDROME (RTT) ▪ Is a genetic disorder that is quite rare. ▪ It causes a genetic mutation, linked to the X chromosome, which affects the production of a vital prote...

RETT SYNDROME (RTT) PTY 224 Lec. 4.1. Prepared by Dragana Djuric OUTLINE ▪ Definition, sign &symptoms ▪ Diagnoses RETT SYNDROME (RTT) ▪ Is a genetic disorder that is quite rare. ▪ It causes a genetic mutation, linked to the X chromosome, which affects the production of a vital protein that controls brain development. ▪ There is no cure for Rett syndrome ▪ Management focus on symptoms and multidisciplinary approach WHAT IS RETT SYNDROME? Progressive neurodevelopment disorder. Common cause of mental impairment in girls. They lose the purposeful use of their hands and lose of communication skills. Babies with Rett syndrome develops normally until the age of 6 to 18 months until their development regresses. WHO IS AFFECTED BY RTT? ▪ Rett Syndrome occurs from 1 in 15,000/20,000 female births. ▪ More than 99.5 % of RS occur only once in a family. ▪ Mostly seen only in girls. ▪ Until 2000, RTT was thought to occur only in girls but a small number of cases have been reported in boys also.  CAUSE Mutations in the gene Methyl CpG binding protein 2 (MeCP2) found on the X chromosome. MeCP2 is called a "transcriptional repressor" because it codes for a protein that controls the expression of other genes. MeCP2 gene provides instruction for making the MeCp2 protein that is essential for normal brain development. Genes that are normally regulated by MeCP2 remain active and continue to make large amounts of particular proteins when they are not needed. This defect disrupts the normal functioning of nerve cells, leading to the signs and symptoms of Rett syndrome. Depending on what part of the gene contains the mutation, partial loss of this protein changes the environment experienced by developmentally important proteins which, in turn, leads to the RTT phenotype. ALLELIC VARIANTS Mutations in the MECP2 gene in both classic and Preserved Speech Variant (PSV) Rett syndrome establishing that the 2 forms are allelic disorders Difference between PSV and classic Rett syndrome: PSV patients typically recover some degree of speech and hand use and usually do not show growth failure. Progressive scoliosis, epilepsy, and other minor handicaps, usually present in Rett syndrome, are rare in the preserved speech variant. WHAT IS DIAGNOSTIC CRITERIA FOR RETT SYNDROME? ▪ All of the following: ▪ Apparently normal prenatal and perinatal development ▪ Apparently normal psychomotor development through the first few months after birth ▪ Normal head circumference at birth DIAGNOSTIC CRITERIA Onset of all of the following after the period of normal development: Deceleration of head growth between ages 5 and 48 months Loss of previously acquired purposeful hand skills between 5 and 30 months with the subsequent development of stereotyped hand movements (e.g., hand-wringing or hand washing) Loss of social engagement early in the course ( although often social interaction develops later) Appearance of poorly coordinated gait or trunk movements Severely impaired expressive and receptive language development with severe psychomotor retardation (www.cdc.gov/ncbddd/autism/overview_diagnostic_criteria.htm) WARNING SIGNS AND SYMPTOMS: There are 4 stages in the child’s development: ▪ Stage 1 ( 6-18 months) ▪ Slowing of an infant’s head growth after 5 months ▪ May not make eye contact ▪ May not show interest in toys ▪ Could be calm, quiet baby ▪ Use repetitive hand movements such as hand washing or clapping ▪ Most girls crawl without using their hands ▪ Able to walk STAGE 2 (1-4 YEARS OLD) ▪ Rapid Destructive phase ▪ Severe impairments in speech ▪ Lack of ability to perform motor functions, including chewing and swallowing ▪ Repeated hand stereotypes become common along with possible abnormal sleeping patterns, teeth grinding, and loss of muscle tone ▪ Evident incidents of breath holding or hyperventilating can occur ▪ May become irritable because of communication barriers and walk unsteadily due to curvature of the spine STAGE 3 ( 2-10 YRS) ▪ Plateau phase ▪ Loss of the ability to execute or carry out movements -Apraxia ▪ Gastrointestinal disorders and seizures often appear ▪ The child’s behavior frequently shows some improvement such as less irritability and crying ▪ Better communication skills and an increase in attention span ▪ Many patients diagnosed with RS stay in this stage for most of their lives. STAGE 4 AFTER 10 YEARS ▪ Late Motor Deterioration ▪ Patients could slowly lose their mobility, including not walking at all. ▪ No loss of cognitive, hand or communication skills ▪ Recurring hand gestures often decrease ▪ Scoliosis may develop along with muscle inflexibility. CHARACTERISTICS Normal Rapid Repetitive developm deteriorati hand ent to on of Apraxia movemen first 5-18 Language ts. months skills Dyspraxic Breathing Acquired difficultie microcep Hypotonia gait s haly Apnea Hyperventilation CO- MORBIDITY ▪ Gastrointestinal problems ▪ Epilepsy - start at age 3 (Guerrini & Parrini, 2012) ▪ Scoliosis ( around 10 years increase in frequency with age throw puberty) ▪ 85 % has scoliosis in the age 16 and older (Percy, Lee, Neul, Lane, Skinner, Geerts, & Barrish, 2010) OUTCOME MEASURE ▪ The Rett Syndrome Gross Motor Scale ▪ 45 points ▪ Scoring 0- 3 ▪ The items include motor tasks in sitting, standing, walking and running  Level of assistance Item Maximal Moderate Minimal None Comments (0 points) (1 point) (2 points) (3 points) 1. Sitting on floor for 10 seconds 2. Sitting on a chair with a back 10 seconds 3. Sitting on a stool 10 seconds (no back support) 4. Sit to stand 5. Standing 3  Level of assistance Item Maximal Moderate Minimal None Comments (0 points) (1 point) (2 points) (3 points) 6. Standing 10 seconds 7. Standing 20 seconds 8. Walks 10 steps 9. Side steps 10. Turns  Level of assistance Item Maximal Moderate Minimal None Comments (0 points) (1 point) (2 points) (3 points) 11. Walks on a slope 12. Steps over obstacle (height of a door frame) 13. Stands up from the floor 14. Bending to touch the floor and returns to SCORING THE RETT SYNDROME GROSS MOTOR SCALE Items to sum Score Total All ___ / 45 Sitting subscale 1, 2, 3 ___ / 9 Standing and Walking 4, 5, 6, 7, 10, 11, 12, 13, ___ / 27 subscale 14 Challenge subscale 8, 9, 15 ___ / 9  IMPAIRMENT ASSESSMENT Neuromuscul Musculoskel ar Tone etal Ataxia Hypotonia Scoliosis Seizures Motor Cognitive Sensation Development Development Sensory Delay Delay Dysfunction (Umphred, 2013). THERAPIES INCLUDE ▪ Aquatic Rehabilitation ▪ Physiotherapy ▪ Music Therapy ▪ Occupational Therapy ▪ Hippo therapy ▪ Speech Therapy ▪ The most enjoyable for RTT MANAGEMENT PHYSIOTHERAPY ▪ To improve or maintain mobility, balance, coordination, posture ▪ Reducing apraxia throw repetitive movements Adaptive seating system Braces for scoliosis  PHYSIOTHERAPY GOALS ▪ Improve mobility and posture and reducing tone (improves feeding abilities) ▪ Daily fluctuation in mood and abilities ▪ Reducing apraxia through repetitive functional ▪ Follow- up movements/activities ▪ Parent education ▪ Increase cardiovascular fitness- hydrotherapy ▪ Stimulate hand use (hand splints, fine motor activities) ▪ Improve body awareness through proprioceptive training ENHANCE COORDINATION AND BALANCE THROUGH PRACTICE IN VARIOUS SITUATIONS AND ENVIRONMENTS IN EARLY AGE MANAGEMENT ▪ Occupation therapy ▪ Speech & Language therapy ▪ Reduce stereotypic hand ▪ Teaches non verbal movement communication using augmentative and alternative ▪ Maintain use of hand Communication (AAC) ▪ Promote self- care ▪ Ex. Eating with spoon -to teach technique ( its not possible for RTT to eat independently) ▪ Hand splint ▪ Eye-gaze devices ▪ Environmental Modifications ▪ Swallowing difficulty ( chairs, table, toilet…) ▪ Improve social skills MANAGEMENT ▪ Medication ▪ Parental counseling ▪ Anticoulvusant drugs- to control seizure ▪ Drugs for breathing problem ▪ Constipation, reflux ▪ Anti-arrhythmic drugs ▪ Nutrition's supplement to gain weight ▪ Watch Esme 4th year old girl ▪ Watch “There is hope “ with Rett syndrome ▪ https://www.physio- https://www.physio- pedia.com/Rett_Syndrome pedia.com/Rett_Syndrome REFERENCES Umphred, D. A., & Lazaro, R. T. (2013). Chapter 13: Genetic Disorders A Pediatric perspective In Neurological rehabilitation (sixth). (PP: 358-361) Elsevier Health Sciences. Schultz, R. J., & Glaze, D. G. (2019, August 6). Rett syndrome: Treatment and prognosis. Retrieved from https://www.uptodate.com/contents/rett-syndrome-treatment-and- prognosis?search=rettsyndrome&source=search_result&selected Title=2~33&usage_type=default&display_rank=2#references. Torres, L. E., Sanders, M. E., Benitez, C. B., & Ortega, A. M. (2019). Efficacy of an Aquatic Exercise Program for 3 Cases of Rett Syndrome. Pediatric Physical Therapy, 31(4). doi: 10.1097/pep.0000000000000655 REFERENCES ▪ http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312750 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=b ooks&doptcmdl=GenBookHL&term=Rett+Syndrome+AND+gnd% 5Bbook%5D+AND+138074%5Buid%5D&rid=gnd.section.216 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=b ooks&doptcmdl=GenBookHL&term=Rett+Syndrome+AND+gene %5Bbook%5D+AND+413637%5Buid%5D&rid=gene.chapter.rett# rett.T1 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=b ooks&doptcmdl=GenBookHL&term=Rett+Syndrome+AND+gene %5Bbook%5D+AND+413637%5Buid%5D&rid=gene.chapter.rett# rett.Nomenclature http://www.rcsb.org/pdb/explore.do?structureId=1QK9