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)