Symptoms of Autism Spectrum Disorders and Rare Diseases

Mihaiela-Virginia Fazacas, psychologist Baican Cosmina, special education teacher

Definitions

Rare diseases• A disease or disorder is

defined as rare when it affects less than 1 in 2000 citizens

• There are between 6000 and 8000 rare diseases

• 75% of rare disease affect children

Autism Spectrum Disorders• Autism - or more precisely

the autism spectrum disorders (ASDs) - represents a broad group of developmental disorders characterized by:

- impaired social interactions, - problems with verbal and

nonverbal communication, - and repetitive behaviors or

severely limited activities and interests.

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

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.

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).

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

RD Associated with Autistic Disorder

• Other Rare diseases associated with autism- William's Syndrome- Moebius Syndrome- Tourette Syndrome- Untreated Phenylketonuria (PKU)- Joubert Syndrome

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.

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.

Day Therapy Center

• What do we do?1.First the child is evaluated:- GARS - Portage Scale- Observation- Behavioral tasks (mini experiments)- Interview with parents

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

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)

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)