- Pervasive Developmental Disorders (PDD) are characterized by
disturbances in and socio-emotional development, including non-verbal social cognition and verbal social cognition
(See also Social Interaction in Social Development DTW;
Warning Signs of Autism Spectrum Disorders pt).
- There are five major Pervasive Developmental Disorders
(also referred to as Autism Spectrum Disorders): Rett's Disorder,
Childhood Disintegrative Disorder, Pervasive Developmental Disorder, NOS,
Asperger's Disorder and Autism.
- Postmortem and MRI studies have shown that many major brain structures are implicated in autism. This includes the cerebellum, cerebral cortex,
limbic system, corpus callosum, basal ganglia, and brain stem.
- Etiology: Evidence points to genetic factors
playing a prominent role in the causes for ASD.
- comprises a range of
social interpretations and actions that can help children gain
peer acceptance and true satisfaction from their interactions.
When these abilities are deficient or seemingly absent, the
social life of a child becomes a persistent source of anguish.
These abilities include:
- Verbal Social Cognition is the capacity to deploy language
effectively within social contexts is "verbal pragmatics"
Verbal pragmatic abilities enable him or her to understand
and say the right things at the right times while interacting
with others
(Ninio, A. 1996)
(See also: Verbal
Pragmatic Abilities).
-
.
Rett's Disorder
- Normal development and head growth for the first 6 to 48 months followed by:
- deceleration of head circumference growth leading to microcephaly
- language deficits
- regression in social functioning
- loss of previously acquired hand function
- progressive spasticity
- progressive cognitive losses becoming severe to profoundly mentally retardation
- hand stereotypes such as hand wringing is a hallmark sign
- Occurs almost exclusively in females
- Prevalence: 1 in 10,000-23,000 female births (Exkorn, 2005)
- Etiology is believed to be a genetic mutation in the gene MECP2
(Amir, RE )
(Van Acker, R 1997)
.
- Prognosis: Over time deterioration in motor skills may lead
to the need for a wheelchair; life expectancy may be shortened; cognitive
skills do not rebound, but social contact may improve slightly
(
(Van Acker, R 1997)
Latest research on Rett's Disorder
Childhood Disintegrative Disorder
- Normal development for 2 to 10 years of age followed by
neurologic disintegration (usu. by 5 years) leading to profound regression
in communication, social interaction and daily life skills (dressing, eating and toileting)
- Deficits in language, socio-emotional and motor skills
are more profound than in other PDDs
- Occassionally onset is concurrent with psychological stress
or a medical event unrelated to etiology
(Volkmar, FR 1997b)
- Seizure disorders are often co-morbid
- Profound mental retardation is common
- Prevalence: greater in males
- Etiology: Very little is known but a is suspected (
(Volkmar, FR 1997b)
.
- Prognosis: Following regression usu. no recuperative
development occurs. Life expectancy is normal in most cases, although
regression to the point of death has been reported in select cases
(Volkmar, FR 1997b)
Latest research on Childhood Disintegrative Disorder
Pervasive Developmental Disorder, NOS
- Atyptical or non-conforming autistic symptoms, such as odd
language and social behavior or late onset, that don't meet criteria
for another PDD, yet are not mild enough to be a variant of normal
development and behavior
- May have onset after 3 but is not severe enough to
be diagnosed as childhood disintegrative disorder
Latest research on Pervasive Developmental Disorders
According to the Diagnostic and Statistical Manual of Mental Disorder-Fourth Edition
(DSM-IV)
(
American Psychiatric Association 1994)
, the following are the definitions
for the Rett's, Childhood Disintegrative, Aspergers, and Pervasive Developmental
Disorder NOS.
- All of the following:
- apparently normal prenatal and perinatal development
- apparently normal psychomotor development through the first 5 months after birth
- normal head circumference at birth
- 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 ages
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
- Apparently normal development for at least the first 2 years
after birth as manifested by the presence of age-appropriate verbal and
nonverbal communication, social relationships, play, and adaptive behavior.
- Clinically significant loss of previously acquired skills
(before age 10 years) in at least two of the following areas:
- expressive or receptive language
- social skills or adaptive behavior
- bowel or bladder control
- play
- motor skills
- Abnormalities of functioning in at least two of the following areas:
- qualitative impairment in social interaction (e.g.,
impairment in nonverbal behaviors, failure to develop peer
relationships, lack of social or emotional reciprocity)
- qualitative impairments in communication (e.g.,
delay or lack of spoken language, inability to initiate or sustain
a conversation, stereotyped and repetitive use of language, lack of
varied make-believe play)
- restricted, repetitive, and stereotyped patterns of
behavior, interests, and activities, including motor stereotypes and mannerisms
- The disturbance is not better accounted
for by another specific Pervasive Developmental Disorder or by Schizophrenia.
This category should be used when there is a severe and pervasive impairment
in the development of reciprocal social interaction or verbal and nonverbal communication
skills, or when stereotyped behavior, interests, and activities, are present, but the
criteria are not met for a specific Pervasive Developmental Disorder, Schizophrenia,
Schizotypal Personality Disorder, or Avoidant Personality Disorder. For example,
this category includes "atypical autism"- presentations that do not meet the criteria for
Autistic Disorder because of late age at onset, atypical symptomatology, or subthreshold
symptomatology, or all of these.
Parent text, preschool
Parent text, school age
- should be done at every well-child visit (AAP, 2001a)
- Concerns about language development and social difficulties should
be taken seriously and
(See Tools: M-CHAT , Australian Scale for
Asperger's Syndrome, CAST )
Treatment
- Children with suspected PDDs or developmental delay should be
appropriate to age as provided by federal law (; See also:
Mental
Retardation in Cognitive Development DTW)
-
include (
(American Academy of Pediatrics, Committee on Children with Disabilities 2001a)
(NIMH, 2006):
- Intensive early intervention and/or special education
(See Educational options for children with a PDD pt)
- to decrease repetitive behaviors
and increase adaptive social behaviors (NIMH, 2004)
- Parent training
- Speech, occupational and physical therapy to address
communication, academic and physical problems; vocational training for adolescents
- Psychopharmacological treatment to minimize repetitive
behaviors and to treat co-morbid conditions, namely Anxiety or Depression
(See: Medication, Anxiety DTW or Sadness DTW)
- Community support to cope with
(Koegel, RL 1992)
,
(Moes, D 1992)
)
- Continue regular course of immunizations and provide
parent education on the value of immunization as needed.
Medication
- Pharmacological treatment may be useful for symptoms
that interfere with participation in educational interventions or are
a source of distress (See: Medication Options for PDDs pt; See:
Child Psychopharmacology DTW).
Commonly used medications include:
- for irritability
(RUPP 2002)
(Risperidone is the only medication with an autism-specific FDA approval.)
- for anxiety,
depression or OCD symptoms
(repetitive behavior)(
(McDougle, CJ 1997)
- for aggression and anxiety
- Mood stabilizers (lithium)
-
for seizures
- Beta-blockers (propranolol and nadolol)
- Benzodiazepines (diazepam and lorazepam)
- Stimulants for impulsivity and hyperactivity (methylphenidate)
-
is contraindicated
(McDougle, CJ 1997)
Psycho-Education
- Encourage parents to learn about their child's disorder,
ask questions about treatment options and access community support resources
(See: Questions to ask before beginning treatment pt;
See also: Resources for Parents)
- Dispel erroneous theories regarding the etiology of PDDs, including
the mercury-based preservative thimerosal contained in the
(American Academy of Pediatrics, Committee on Children with Disabilities 2001b)
(Hviid, A
)
(NIMH, 2004))
- Parents should be counseled regarding the increased occurrence of
PDDs in siblings, estimated to be 3-7%
(American Academy of Pediatrics, Committee on Children with Disabilities 2001a)
- Many alternative therapies circle in popularity but none have been
empirically demonstrated to be effective
(American Academy of Pediatrics, Committee on Children with Disabilities 2001a)
(NIMH, 2004; See also:
Alternative Therapies for Autism Spectrum Disorders pt; For a comprehensive
listing see also The Autism Sourcebook listed under
Resources for Parents).
These include but are not limited to:
- Nutritional supplements: A supplement that some parents feel is
beneficial for an autistic child is Vitamin B6, taken with magnesium (which
makes the vitamin effective). The result of research studies is mixed; some
children respond positively, some negatively, some not at all or very little.
- Elimination diets: Namely gluten-free, casein-free diets. Gluten
is a casein-like substance that is found in the seeds of various cereal
plants - wheat, oat, rye, and barley. Casein is the principal protein in milk.
Since gluten and milk are found in many of the foods we eat, following a gluten-free,
casein-free diet is difficult.
- Immune globulin therapy: There has been some speculation that immunologic
deficiencies may be a contributing cause of autism. However, there is no rigorous
scientific evidence to support this etiologic hypothesis or the use of immune globulin
therapy as a treatment.
- Secretin: Anecdotal reports have shown improvement in autism symptoms,
including sleep patterns, eye contact, language skills, and alertness. Several clinical
trials conducted in the last few years have found no significant improvements in symptoms
between patients who received secretin and those who received a placebo.
(See: What is secretin? pt)
- Chelation therapy: Typically used to treat lead exposure, this treatment does
not appear to be effective reducing or eliminating autism spectrum symptoms
(Shannon, M 2001)
.
- Auditory integration therapy: Based on the theory some of the symptoms of
autism are due to auditory processing deficits that result in hypersensitivities to sound.
AIT uses a device called an Audiokinetron to deliver specially selected music. AAP
specifically recommends against using this technique due to possible damage to the eardrum
and a lack of supportive evidence
(American Academy of Pediatrics, Committee on Children with Disabilities 2001a)
.
- Facilitated communication: A trained facilitator guides the limbs and
hands of the autistic child to utilize a computer keyboard for communication. No
scientific evidence to support its use.
- It is best to be open and understanding when parents ask questions about
alternative therapies. Explain placebo effects and the importance of rigorous empirical
studies in determining safety and efficacy. Be willing to try alternative treatments in
select cases if clear treatment goals and pre- and post-testing are possible
(American Academy of Pediatrics, Committee on Children with Disabilities 2001a)
- PDDs present special challenges for adolescents with PDDs and autistic
symptoms and aggressive behavior may increase
(See: PDDs in adolescence pt)
Rett's Disorder
Child Disintegrative Disorder
Pervasive Developmental Disorder-NOS
- See General management of Pervasive Developmental Disorders
- Symptoms begin <3years of age
(See Tools: Developmental Symptoms of Autism)
- Deficits in three core areas define autism:
- - poor eye contact;
little or no interest in establishing friendships; Difficulty
with reciprocal social interaction; lack of emotional empathy
- Diminished or absent verbal expression or gestures
- Stereotyped, "robotic", or idiosyncratic speech
- Echolalia and rote imitation of words
- Unusual prosody of speech (sing-song, monotone)
- Problems realizing implications of what is said;
using prosody to convey shades of meaning; lack of ability to
appreciate and use humor
- Receptive language is on par or better than
expressive and can be aided by good rote memory and echoing
- - lack
of pretend play, over focus on parts of toy rather than usual function of toy
- and unusual behaviors
are typical but not essential for the diagnosis
- Self-stimulating motor stereotypies especially when excited (such as hand flapping)
-
behaviors
- In older, higher functioning children preoccupations are more
- Inflexibility
-
by routines and repetitive behaviors
(Baron-Cohen, S 1989)
-
(savant skills)
- Sensory and perceptual problems may also be present
- Hearing - Usually not true deafness but inattentive to social
speech and some loud noises or may be hypersensitive to certain sounds
- Vision - unusual interest in certain visual characteristics
such as shininess or specific colors
- Seizures occur in one third of autistic children (Tuchman, Rapin, and Shinmar, 1991a, 1991b)
- but realize the
specific nature or degree of the problem (NIMH, 2004)
- Mental Retardation in 75% (See:
Cognitive Development DTW)
Prevalence
-
than previously believed (e. g., Yeargin-Allsopp, M 2003) with a
prevalence of up to 1 in 100 eight year olds in the U.S.
(Yeargin-Allsopp, M 2003)
- Male to Female ratio= 4:1, although females
have a higher rate of MR and neurologic disorders
(Ritvo et al., 1989)
(Yeargin-Allsopp, M 2003)
Etiology
- Mostly genetic with 60-90% concordence for Monozygotic twins with
transmission associated with a wide range of etiologies such as specific genetic syndromes
(e. g., Williams, Tuberous Sclerosis, Fragile X, megalencephaly (e.g., Sotos) , chromosomal
(e.g., Down), mitochondrial disorders, intrauterine infection (e.g., Rubella), biochemical errors
(e. g., PKU), teratogenic (e.g., intrauterine Valproate exposure) or perinatal injuries and over 20 different genes identified for "idiopathic autism" with multigenic and polygenic inheritance considered likely.
- Autism is NOT caused by emotional trauma or the
mercury-based preservative thimerosal contained in the (NIMH, 2004)
Prognosis
- Adaptability is related to IQ level
- Not being able to speak by age 5 makes it unlikely that
child will ever have speech
Latest Research on Autism
Latest Research on Prevalence of Autism
Latest Research on Etiology of Autism
Latest Research on Autism and Genetics
Treatment/Educational Intervention
- Early and sustained intervention appears to be important
regardless of the philosophy of the program, so long as a high degree
of structure is provided
(Rogers, SJ 1996)
- Programs typically incorporate which can significantly
facilitate acquisition of language, social and other skills
(Campbell, M 1996)
Campbell et al., 1996 (Koegal 1992 a, b)
- Psychotherapy may be useful in treating co-morbid
depression in high functioning autism and Asperger's
(Wing, L 1983)
otherwise limited usefulness
- Medication may be a useful adjunct to treatment/education when
used to target specific symptoms of co-morbid conditions such as use of SSRI's for anxiety
and Stimulants for associated ADHD symptoms. There is data to support the use of atypical
antipsychotic medication for the irritability
(RUPP 2002)
that is often associated with Autism
and Risperidone is the only medication thus far approved (for ages 5 -16) for a specific
Autism indication. Because of the serious side effects, it is especially important to
determine if the irritability can be better managed by improved and clearer routines or improved
communication.
Latest Research on Autism and Medication
Latest Research on Autism Intervention and Treatment
General Socio-Emotional Development
For a brief office assessment of socio-emotional development consider
the Brief Infant-Toddler Socio-Emotional Assessment (BITSEA; Briggs-Gowan, 2004).
It is comprised of 42-items requiring a 4th-6th grade reading level and takes about
7 minutes to complete. Areas covered include internalizing behavior, externalizing
behavior, dysregulation, competence, social relatedness, maladaptive behaviors and
atypical development. Although the clinical validity of the BITSEA in diagnosing
Autism Spectrum Disorders has not yet been formally evaluated, it can still be a
useful method for screening social-emotional behavior and competence delays in
children in the 0-3 age range.
Autism Spectrum in Toddlers
The 23-item Modified Checklist for Autism in Toddlers (M-CHAT ; Robins et al., 2001) is very good brief in-office
screener for autism. It has been demonstrated to have excellent sensitivity and
specificity. A positive endorsement of any 3 items yielded a sensitivity of .97
and a specificity of .95. It is appropriate for children up to 24-months of age.
Autism Spectrum in School age children (4 years of age and older)
The Social Communication Questionnaire©
(SCQ; Berument et al., 1999) is a 40-item
screener used to identify autism with DSM-IV and ICD-10 diagnostic criteria
(formerly known as the Autism Screening Questionaire). Primarily used in
research settings with children older than four years and with parents who
are familiar with completing screening measures. Copyrighted and distributed
by Western Psychological Services.
Asperger's
The Australian Scale for Asperger's Syndrome (Garnett & Attwood, 1995) is a
24-item questionnaire designed to be completed by a parent or primary caregiver.
It is divided into major life areas: Social and emotional skills, Communication skills,
Cognitive skills, Specific interests, and Movement skills. A "yes" answer with a score
of 2-6 to more questions does not necessarily indicate Asperger's but a referral is
appropriate (Attwood, 1998).
The Childhood Asperger Syndrome Test (CAST; Scott et al., 2002) is a
31-item questionnaire designed to identify possible Asperger's. A score of 15
or greater is indicative possible Asperger's.
The Childhood Autism Rating Scale (CARS©; Schopler et al., 1988) is a 15-item
scale that rates children based on direct behavior observation. It distinguishes
between mild, moderate and severe autism in children older than two. Copyrighted
and distributed by Western Psychological Services.
1. Social impairment (extreme egocentricity) (at least 2 of the following):
a) Inability to interact with peers
b) Lack of desire to interact with peers
c) Lack of appreciation of social cues
d) Socially and emotionally inappropriate behavior
2. Narrow interest (at least 1 of the following):
a) Exclusion of other activities
b) Repetitive adherence
c) More rote than meaning
3. Repetitive routines (at least 1 of the following):
a) On self, in aspects of life
b) On others
4. Speech and language particularities (at least 3 of the following):
a) Delayed development
b) Superficially perfect expressive language
c) Formal pedantic language
d) Odd prosody, peculiar voice characteristics
e) Impairment of comprehension including misinterpretations of literal/implied meanings
5. Non-verbal communication problems (at least 1 of the following):
a) Limited use of gestures
b) Clumsy/gauche body language
c) Limited facial expression
d) Inappropriate expression
e) Peculiar stiff gaze
6. Motor Clumsiness
a) Poor performance on neuro-developmental examination
Books:
Attwood T (2000). Asperger's Syndrome: A guide for Parents and Professionals
Tony Attwood. London and Philadelphia: Jessica Kingsley Publishers.
Exkorn KS (2005). : Everything You Need to
Know About Diagnosis, Treatment, Coping, and Healing. New York, NY: Regan Books/Harper Collins.
Harris SL (1994) Siblings of Children with Autism:
A Guide for Families. Rockville, MD: Woodbine House Publishing
Powers MD (1989) Children with Autism: A Parent's Guide. Rockville, MD:
Woodbine House Publishing
Siegel B (1996) The World of the Autistic Child: Understanding and
Treating Autistic Spectrum Disorders. Oxford, England: Oxford University Press
Willey LH (1999). Pretending to be Normal: Living with Asperger's
Syndrome. London ; Philadelphia: Jessica Kingsley.
Wing L (1985) Autistic Children: A Guide for Parents and Professionals.
New York: Brunner/Mazel
Online Resources
http://www.asperger.org (Asperger Syndrome Coalition of the United States)
http://www.aspergersyndrome.org (Online Asperger Syndrome Information and Support)
http://www.aspennj.org/index.html
http://www.socialskillbuilder.com (Software to improve social skills)
http://www.nimh.nih.gov/publicat/unravel.cfm (NIMH Website Information about Autism)
www.cureautismnow.org (Cure Autism Now Foundation)
http://www.thegraycenter.org (The Gray Center for Social Learning and Understanding)
Parent Support Groups
Autism Society of America: 301-565-0433
Childhood Disintegrative Disorder Network; c/o Madeline Catalano;
1172 Four Mile Road Allegany, NY 14706
International Rett Syndrome Association: 301-248-7031
National Alliance for Autism Research: 908-359-9957
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