You are on page 1of 6

PDD - NOS (Pervasive Developmental Disorder Not Otherwise Specified)

Biasa disebut autism yang tidak umum, juga disebut Atypical Autism. Diagnosis PDD-NOS
dibuat ketika seorang anak tidak ditemukan kecukupan kriteria untuk diagnosis yang spesifik
tetapi terdapat ketidakmampuan pada beberapa perilakunya. Memiliki gejala gangguan
perkembangan dalam komunikasi, interaksi maupun perilaku. Kualitas gangguannya lebih
ringan, misalnya masih ada kontak mata.

nder DSM-IV, pervasive developmental disorder included four separate


disorders: autistic disorder, Aspergers disorder, childhood disintegrative
dsorder, and Rett syndrome in addition to the catch-all diagnosis of
pervasive developmental disorder not otherwise specified (PDD-NOS).
Molecular genetic research indentified a single defect as the basis of
Rett's disorder, which then clarified that not all individuals with Rett
syndrome have social deficits. The new diagnostic category of autism
spectrum disorders (ASD) in DSM-5 sought to improve specificty of
diagnosis by clarifying that ASD is not a degenerative disorder, thereby
eliminating childhood disintegrative disorder. Most individuals diagnosed
with a pervasive developmental disorder (PDD) from DSM-IV should still
meet the criteria for ASD in DSM-5 or another, more accurate DSM-5
diagnosis.[2]
ASD in its most severe presentation may describe a preschool-aged
child who presents with no expressive language, seeks comfort from
parents in atypical ways, engages in repetitive hand flapping, and
makes no eye contact. In the mildest presentation, the disorder may
include a child aged 9 years with poor peer interactions, normal verbal
abilities, and mild nonverbal disabilities. The mild nonverbal disabilities
make it difficult for the child to follow subtle social cues and affective
signals that most children easily interpret as anxiety, anger, or sadness.
The child's preoccupation with a restricted interest and attention to
detail often tries the patience of peers with similar interests who are
developing normally. (See History, Etiology.)
Symptoms of PDD or ASD that may begin during the first year of life
include lack of joint attention. A normally developing 1-year-old infant
would make eye contact with a parent, point at an object for the parent
to see, and smile responsively if the parent identifies the object. A child
at risk for PDD or ASD often lacks these behaviors. While some
toddlers may be identified through pediatric screening using instruments
such as the M-CHAT[5] , many children may escape clinical attention until
adolescence. Adolescents with normal development begin to use
abstract thinking, realize that people have differing opinions, and learn
to accept them. Adolescents with PDD or ASD often present with rigid
thinking, are unable to accept other's opinions, and explode behaviorally
when they cannot convince others to adhere only to their opinion.
Associated morbidities

Identified organic disorders that occur with PDD/ASD include epilepsy


(the most common medical condition associated), cerebral palsy, fragile
X syndrome, fragile X premutation involvement, tuberous sclerosis,
phenylketonuria, neurofibromatosis, Down syndrome, and congenital
rubella. Roughly 30% of patients with PDD/ASD present with a known
medical disorder.[6] Seizures are the most frequent comorbidity.
Deletions or duplications (eg, 15q duplication) are the most common
genetic abnormality associated with PDD/ASD.[7] (See Etiology.)
ASD is commonly comorbid with intellectual disability. Fragile X
syndrome is the most common genetic cause of intellectual disability.
Therefore, autistic disorder should be common in those with fragile X
syndrome. Several studies have demonstrated an excess of autistic
symptom clusters and clinical findings, such as larger head
circumference, in individuals with fragile X syndrome greater than would
be expected among persons with intellectual disability without a genetic
etiology.[8] These features are absent in cases of fragile X syndrome
without autism. Therefore, a subtype of fragile X syndrome may be an
ASD behavioral phenotype. As evidence mounts that ASDs have
biological origins, these genetic syndromes may be used as models to
develop new treatment strategies for them. (See Etiology.)
Symptoms of obsessive-compulsive disorder (OCD) and attention deficit
hyperactivity disorder (ADHD) are often present in patients with ASD.
Some clinicians label the OCD and ADHD symptoms separately,
whereas others include them as part of the presentation of ASD.
Regardless of the approach, the symptoms of OCD and ADHD may be
disabling and require treatment with standard approaches that include,
but are not limited to, medications and behavioral therapy.
Aggression is a symptom not specific to any particular psychiatric
disorder but may be particularly troubling in ASD because the children
cannot always communicate the cause of their distress. The etiologies
are broad and include constipation, anxiety, depression, anxiety,
psychosis, or adjustment disorder. Treatment requires clarification of
etiology to help select medications and other appropriate therapies.[9, 10]
A study using subjects recruited from the Autism Speaks Autism
Treatment Network consortium identified depression in 7% of individuals
with ASD based on parent report. Age, IQ, history of seizures, and
gastric complications increase the likelihood of depression.[11] Therefore,
the prevalence of depression is likely to be higher because many
children with ASD are unable to provide the subjective self-report that is
traditionally needed for the identification and diagnosis of depression.
The evaluation of anxiety disorders in ASD is problematic as well given
that symptoms often require subjective self-report. Evidence-based
guidelines have been developed by a multidisciplinary work group of
clinicians and researchers through the Autism Speaks Autism Treatment
Network.[12] These assessments take extended time and sensitivity. For
example, an assessment of the child's ability to understand and express

emotion would first involve questions like, "Do you know what worried
means?" Modified cognitive-behavioral therapy (CBT) has been shown
to be beneficial for children with ASD in preliminary studies.
Sleep problems are extremely common in ASD. A study using the
Children's Sleep Habits Questionnaire identified 715 of children with
clinically significant sleep problems.[13] The number of children meeting
criteria for a sleep disorder was 30%. Medications prescribed to 46% of
4- to 10-year-olds with a sleep disorder diagnosis.
Sensory integrations disorder is not found in the DSM-IV, DSM-5 or the
International Statistical Classification of Diseases and Related Health
Problems, 10th revision (ICD-10) but best captures the behavioral
problems that result when individuals with ASD become disruptive when
bothered by loud noises, tags on clothing, or textures of food. They may
also be disruptive while trying to seek alternative methods of selfsoothing, such as swinging, wrapping themselves in heavy blankets, or
eating nonnutritive items. Identification of these sensory needs or
deficits is integral to the behavioral management of individuals with
ASD.
Milestone regression
Regression, or the loss of developmental milestones, was once a
controversial finding in autistic disorder. Today, differing degrees of
regression are recognized as part of the developmental presentation of
ASD.[14] However, major losses of multiple developmental milestones
suggest Rett syndrome or other genetic or metabolic disorders. Certain
mitochondrial disorders occur only in the brain and therefore may
present without any motor or peripheral deficits. Landau-Kleffner
syndrome (LKS) is an epileptic disorder that typically has a fluctuating
course. In LKS, regression in language development occurs repeatedly
due to seizure activity. Childhood disintegrative disorder is no longer in
the DSM-5 because of the difficulty in clarifying diagnostic criteria. Many
cases diagnosed in the past were likely due to genetic causes that now
are readily diagnosed with improvements in technology.
Researchers continue to identify multiple etiologies for the underlying
pathophysiology of pervasive developmental disorder (PDD/ASD).
Different levels of dysfunction in CNS systems are most likely involved.
For example, at the molecular level, the type of serotonin-transporter
gene promoter may modulate the severity of ASD or increase the risk
for its development.[15] Data from a blood genomic study have suggested
that the immune system plays a role.[16] At the neuroanatomic level,
preliminary brain imaging studies have shown differences that may
manifest clinically as a larger head size.[17] Environmental factors such
as paternal age may also contribute to development of ASD, although
mercury exposure and vaccinations have mostly been dismissed.
Changes in culture may explain some of the increased rates of ASD. A
study correlated increased time spent indoors with increased rates of

ASD and suggested that this was caused by increased television


viewing.[18] Television may reinforce repetitive behaviors in vulnerable
children who, in a different era, would not have spent so much time with
computer games and television programming. Screen time may also
take away from opportunities for interpersonal interactions and social
skill development.
Children with ASD may have other specific cognitive deficits, including
central auditory processing problems, which imply distorted pathways
between hearing and cortical processing. They may also have specific
cognitive strengths. In isolated cases, these special cognitive talents
lead to these individuals being labeled savants.
Some of these deficits and strengths may manifest as sensory
integration issues. For example, children with ASD may have
hyperacoustic hearing, predisposing them to act erratically around loud
noises. The hyperacoustic hearing may enable some children with ASD
to be gifted musicians.[19] Temple Grandin, a distinguished author and
professor with Asperger disorder, writes about her need for increased
tactile stimulation, which helped her develop a more humane way to
move cattle.[20]
Children with fragile X syndrome have many of these cognitive deficits.
The genetic and molecular basis of fragile X syndrome has been
described in detail, supporting the premise that deficits in the protein
encoded by the fragile X syndrome gene result in glutamate disturbance
and abnormal neuronal axonal development.[21] The protein FMRP,
encoded by the fragile X syndrome gene, may interact with other
neurotransmitters or processes to cause autistic symptoms in fragile X
syndrome more often than in other genetic syndromes or nonsyndromic
intellectual disability.
Since the identification of the genetic abnormality in Rett syndrome,
milder cases of Rett syndrome with smaller deletions have been
identified.[22] Individuals with milder cases of Rett syndrome have better
intellectual ability and more classic symptoms of ASD. The genetic
defect in Rett syndrome results in alterations in the power center
equivalents of brain cells, also known as mitochondria.[23]
A survey of existing literature by Fombonne in 2003 indicated that the
rate for all forms of pervasive developmental disorder (PDD/ASD) was
30-60 cases per 10,000 population, while the rate for Asperger disorder
was 2.5 cases for 10,000 population and the rate for childhood
disintegrative disorder was 0.2 case per 10,000 population. Fombonne
attributed an increase in prevalences over time to changes in case
definitions and to improved awareness.[24]
An epidemiologic survey confirmed the prevalence of ASD to be 1 in
150 children.[25] The increase in reported cases of ASD probably results
from an increased identification of cases that do not meet specific
criteria for autistic disorder or Asperger disorder but are diagnosed as

PDD not otherwise specified (PDD-NOS) under DSM-IV. The DSM-5


reports the prevalence as 1%.[2]
International incidence
No evidence suggests that the international prevalence of ASD differs
from the prevalence in the United States. However, the literature
indicates that these disorders are identified at a later age in specific
regions of the United States than in other countries.[26]
Race predilection
Race has not been implicated as a risk factor for ASD.
Sex predilection
Sex bias for ASD is significant. ASD may be 5 times more common in
boys than in girls. Asperger syndrome as defined in the DSM-IV may be
10 times more common in boys than in girls.
Only Rett syndrome affects more girls than boys; in fact, Rett syndrome
is rarely diagnosed in boys. However, new molecular testing for Rett
syndrome indicates that the incidence of the condition is greater in boys
than previously reported.
Age predilection
Previously, autistic disorder carried an onset criterion; evidence of the
disorder must be present by age 3 years. DSM-5 allows for a wider
range of age onset, specifying only that symptoms begin in the early
developmental period. Symptoms may have onset later if more subtle or
may be masked in adults who developed compensatory
behaviors. Regression in domains other than social communication
after age 2 years usually warrants further evaluation for Rett syndrome
and other genetic disorders.
As noted earlier, ASDs are diagnosed relatively late in United States
compared with other countries.[26] Within the United States, geographical
differences in age of diagnosis present a significant public health
challenge as evidence mounts to support early diagnosis and
intervention.

Many parents of children with ASD need legal guidance to help them
understand their legal rights to benefits and services available from
public schools and from the medical system. Educational advocates are
often necessary. Alternative treatments may drain the financial
resources of families and potentially cause harm to the child.[27]
One study showed that parents with private insurance have a much
higher financial burden for medical care than those with combined
public (Medicaid) and private insurance.[28] Parents should be informed
that they may qualify for Medicaid through the Family Opportunity Act of
2005, eligibility rules that exclude parental income. Interestingly, parents
preferred Medicaid alone to combined coverage even though they had

the greatest financial burden. Having combined insurance may lead to


more difficulties in navigating health care systems.
Prognosis
Absence of intellectual disability and languague disability are the best
prognostic factors for pervasive developmental disorders (PDD/ASD). [2]
Functional language by age 5 is associated with better outcomes. In
contrast, epilepsy associated with intellectual disability predicts poorer
outcomes. Adaptive skills are usually below expected for intellectual
ability which then impacts education and independence as adults.