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Fazacas Baican


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  • 1. Symptoms of Autism Spectrum Disorders and Rare Diseases Mihaiela-Virginia Fazacas, psychologist Baican Cosmina, special education teacher
  • 2. Definitions Rare diseases Autism Spectrum Disorders • A disease or disorder is • Autism - or more precisely defined as rare when it the autism spectrum affects less than 1 in 2000 disorders (ASDs) - citizens represents a broad group of developmental disorders • There are between 6000 characterized by: and 8000 rare diseases - impaired social interactions, • 75% of rare disease affect - problems with verbal and children nonverbal communication, - and repetitive behaviors or severely limited activities and interests.
  • 3. Link between RD and autism • at least 1 of 10 cases of autism occurred in individuals with a history of rare disease • in many cases these two diagnosis may coexist • other rare diseases have just symptoms of autism
  • 4. RD Associated with Autistic Disorders • Rett Disorder — Rett disorder is a neurological disorder and one of the PDDs. • Angelman Syndrome - similar symptoms including hyperactive behaviour, speech problems and hand flapping. Sometimes Angelman syndrome and autism are both present. • Prader-Willi Syndrome - some of the behaviors which are common to both PWS and autism are: delays in language and motor development, learning disabilities, feeding problems in infancy, sleep disturbances, skin picking, temper tantrums, and a high pain threshold.
  • 5. RD Associated with Autistic Disorder • Smith-Lemli-Opitz Syndrome - A recent study of 26 individuals with SLOS found that 17 of them (53%) met criteria for autism (Tierney et al 2001). • Sotos Syndrome – behavioral problems , speech and language delay • Fragile X Syndrome - Approximately 2-3 percent of individuals with autism have Fragile X syndrome (Bailey et al 1993; Fombonne et al 1997).
  • 6. RD Associated with Autistic Disorder • Tuberous Sclerosis Complex - Between 0.4 and 2.9 percent of individuals with autism have tuberous sclerosis complex (Olsson et al 1988; Ritvo et al 1990). • Neurofibromatosis Type 1– The frequency of NF1 in individuals with autism varies from 0.2 to 14 percent in three studies (Gillberg et al 1984; Gaffney et al 1987; Mouridsen et al 1992). • Cornelia de Lange syndrome - developmental delays in receptive and expressive language, heightened sensitivity to touch, present behavioral difficulties
  • 7. RD Associated with Autistic Disorder • Other Rare diseases associated with autism - William's Syndrome - Moebius Syndrome - Tourette Syndrome - Untreated Phenylketonuria (PKU) - Joubert Syndrome
  • 8. First conclusions • An estimated 10 to 15 percent of individuals with autistic disorder have an identifiable genetic condition (rare disease) . Diagnosing a genetic condition enables health care providers to estimate the chance of recurrence in other family members. • Whether or not a given child with RD meets all criteria for autism, he will likely benefit from many of the therapies associated with autism.
  • 9. First conclusions • This is the main reason why the Romanian Prader Willi Association has decided to create a Day Therapy Center for children affected by rare diseases with behaviors on the autism spectrum.
  • 10. Day Therapy Center • What do we do? 2.First the child is evaluated: - GARS - Portage Scale - Observation - Behavioral tasks (mini experiments) - Interview with parents
  • 11. Day Therapy Center • What do we do? 2. We make a individualized program for every child: - objectives: social skills language self-care cognitive motor skills
  • 12. Day Therapy Center • What do we do? 3. Child therapy - Discrete Trials (based on behavioral ABC) for teaching attention to social stimuli, imitation skills, communication and language, social relationships, play etc. - Behavior modification (for maladaptive behaviors)
  • 13. Day Therapy Center • What do we do? 4. Parent’s counseling - Support group - Parental education (for applying the behavior modification and continuing the therapy at home)