DSM CHAPTER 12 DEVELOPMENTAL MILESTONES
Milestones are recognizable skills or abilities that have an expected range and order of
appearance, such as a child taking his first step around the time of his first birthday.
Identifying any significant variations from expected patterns, such as a child taking that first
step near his second birthday, is a key task for any practitioner. Knowing when a significant
variation in development has occurred improves diagnostic accuracy because DSM-5
specifically requires consideration of developmental stages
Five different milestone skill areas should be evaluated: gross/fine motor, visual motor problem
solving, speech and language, social/emotional, and adaptive skills
Gross motor skills are the most obvious to recognize because they involve crawling,
walking, running, and throwing
Visual motor problem solving describes a child’s physical interactions with the world. Fine
motor skills (using one’s hands and fingers) rely on visual input and generally progress at a
slower pace than gross motor skills. If the development of these milestones is delayed, it may
be because of impairments in cognitive, sensory, or motor abilities.
To be able to communicate, a person first must be able to receive input (process what is seen
and heard), understand the meaning of that input, then generate an expression of his thoughts
(translate thoughts into words, then express fluently). Delays in expressive language
milestones may be more apparent than receptive language delays, which may be more subtle
but when present may worsen an expressive language impairment
Social/emotional skills are the core elements of psychiatric functioning. Social skill
development is interactive and thus reliant on the presence of a responsive caregiver. A child’s
temperamental traits influence how he responds to routine activities, which influences how his
caregivers respond. Developing shared joint attention with another person by approximately
age 1 year is a key social milestone. Normal social and emotional development is most closely
linked with speech and language skills.
When you evaluate for the presence of an intellectual disability, adaptive milestones need to
be investigated. Standardized intelligence testing is no longer considered the sole basis for
diagnosing intellectual disability. Adaptive skills include infants learning to feed themselves or
dress themselves. For older kids, it involves self-protection and self-direction.
A child may acquire all his skills in the usual sequence but at a slower rate (a delay), may
acquire his skills at differential rates in different areas (a dissociation), or may achieve
milestones out of the usual order of acquisition (a deviation). Growth and development will
follow recognizable patterns, but it is not an exact script. It is our task to consider what would
constitute normal- range development.
Table 12-2 in the book shows normal-range developmental milestones and developmental
red flags that should trigger specialized assessments
*****************************************************************************
, RUTTER’S CHILD AND ADOLESCENT PSYCHIATRY
CHAPTER 51 AUTISM SPECTRUM DISORDER
ASD is characterized by impairments in reciprocal social communication and a tendency to
engage in repetitive stereotyped patterns of behaviors, interests, and activities. It arises from
atypical brain development. The etiology is likely multifactorial.
The clinical presentation can change over time, often in response to the demands of
the environment or in the presence of co-occurring conditions.
Many individuals with ASD have an early history of regression or a period of lack of progress
of language, of cognition more generally, or social behavior in the early preschool period
The clinical presentation of ASD is remarkably diverse usually with a combination of some
delayed/immature behaviors together with the emergence of more unusual behavioral profiles.
Some of the earliest social communication symptoms represent difficulties in joint attention,
eye contact, lack of social intention to communicate with others, lack of social imitative play
and fascination with sensory stimuli. Some symptoms of ASD are an exaggeration of delays
observed in typical development (lack of useful speech, limited symbolic, and imaginative play
skills) whereas other symptoms are quite distinct and are rarely (or only very transiently)
observed in the development of typical children (delayed echolalia and neologisms).
Cognitive difficulties are very common in individuals with ASD but with the broadening of the
diagnostic criteria for ASD, the proportion of individuals with intellectual disability has
declined
“Hyperlexia,” a remarkable ability to read but with little comprehension of content, is
sometimes observed in severely disabled individuals
Children with moderate to severe cognitive impairment at earlier developmental stages in the
preschool years often present with little or no speech and poor nonverbal communication. They
also tend to engage in repetitive play with sensory stimuli and can become quite upset by
stimuli from the environment such as the texture of certain clothes, some everyday noises, and
particular foods
With higher functioning or older individuals, speech and language are often present, grammar
and vocabulary may be age appropriate, but there remain difficulties in the social use of
communication. In addition to the sensory interests, higher functioning children and adolescents
with ASD often develop intense circumscribed interests that are observed in typically developing
children but are pursued in a solitary, non-social, manner
AS referred to individuals with characteristics of autism but without clinically significant
cognitive or language delay. PDDNOS referred to individuals with characteristics of autism but
not enough to qualify for a diagnosis of either autism or AS. Rett syndrome was a type of PDD
that was characterized by a period of normal development and then a very specific set of signs
and symptoms (e.g., hand wringing) with developmental regression. Disintegrative disorder was
a subtype of PDD characterized by normal development past 36 months of age at which point
the clinical presentation of autism would emerge
DSM-5 has revised the diagnostic criteria for ASD replacing a triad of impairments with
two behavioral domains—social communication and repetitive stereotyped behaviors.
Although delays in language acquisition are common in ASD, they are nonspecific and so have
been removed from the diagnostic criteria. Each domain includes different groups of
symptoms
, or sub-domains and can be represented dimensionally depending on the need for intervention
and support.
DSM-5 includes stereotyped and repetitive speech within the restricted/repetitive behaviors
domain and for the first-time sensory reactivity to aspects of the individual’s environment
has also been included
For an individual to meet criteria for a DSM-5 diagnosis of ASD, evidence of symptoms in all
three of the social-communication sub-domains and any two (or more) of the four restricted
and repetitive behavior sub-domains is required. For individuals who meet criteria for impaired
Social Communication in the absence of restricted and repetitive behaviors, a new diagnostic
category of Social Communication Disorder has been included in DSM-5. Impaired Social
Communication- non-verbal communication, developing and maintaining relationships, and
social-emotional reciprocity. Repetitive/Restrictive patterns of behavior- restricted and fixated
interests, excessive adherence to routine, stereotyped repetitive speech/motor/use of object,
hyper or hypo-reactivity to sensory input.
In the USA, a rapid increase in the number of children receiving a diagnosis occurred
once legislation for special schooling was introduced for autistic children
Parents often become concerned about the development of their children at 12–18 months of
age but children most commonly do not receive a diagnosis until 4 or 5 years of age. the
American Academy of Pediatrics (AAP) and the UK National Screening Committee do not
recommend universal screening. The AAP does suggest that surveillance for ASD should take
place at well baby visits at 6, 12, 18, and 24 months
No screening instrument currently available has sufficient sensitivity and specificity to be used
as a diagnostic instrument
Among all mental disorders, health care spending in the United States is the highest
for individuals with ASD, who had higher physician and outpatient visits as well as
greater prescribed medication use when compared to the non ASD pediatric
population
Zaroff and Uhm (2012) have reported higher rates of ASD among white Americans compared to
Hispanic individuals. Likewise, according to Bernier et al. (2010), white Americans receive a
diagnosis approximately a year and a half before African American children and two and a half
years before Latino children
The ToM (Theory of Mind) deficit may help our understanding of some of the behavioral
features of ASD including a lack of ability to generalize learned responses across settings and the
presence of repetitive and stereotyped behaviors. The “ToM” deficit focuses on aspects of the
social communication impairments and the inability to impute mental states either to oneself or
to others.
The WCC (Weak Central Coherence) Theory was formulated by Frith arguing that individuals
with autism demonstrated a local processing bias (and thus a WCC). The weak central
coherence theory attempts to explain how some people diagnosed with autism
can show remarkable ability in subjects like mathematics and engineering, yet
have trouble with language skills and tend to live in an isolated social world.
These perceptual abilities might also account for the extreme distress experienced by some
children with ASD at small changes in the environment.
Overall, for many individuals, there is a gradual reduction in autistic symptoms and an
improvement in adaptive abilities over time, but it is the variability in individual outcomes that
is
, most striking. The major predictors of better long-term outcome appear to be higher IQ and the
presence of useful speech before 5 years of age
Individuals with ASD appear to have higher rates than the general population of ADHD, mood
and anxiety disorders, obsessive compulsive disorder (OCD), Tourette’s Syndrome, Disruptive
Behavior Disorders/Oppositional Defiant Disorder. ADHD and anxiety disorders are probably the
two most common comorbid disorders
Recent family studies have used the baby sibling design, in which infant siblings of an older child
with autism are followed from birth. A combined analysis of many different samples reported
that the sibling recurrence risk is around 19% in siblings followed prospectively from birth. A
number of twin and family studies have also reported that sub-threshold autistic like traits occur
in the relatives of individuals with ASD more commonly than expected
ASD has a profound effect on fertility as people with ASD generally do not reproduce
The most common abnormalities involve chromosome 7q and 15q but given that there are so
many brain expressed genes it is not surprising that ASD can be associated with abnormalities at
many different loci. The well-replicated finding that between 5% and 15% of individuals with
ASD have either a single gene disorder or a chromosomal abnormality highlights the importance
of general medical screening and genetic testing as part of the diagnostic assessment. Many of
the genes associated with ASD are involved in maintaining the integrity of the synapse and DNA
structure within neurons. This provides some evidence that the genes involved in ASD are likely
to be part of one or more common pathways.
Many obstetric complications have been studied as possibly associated with autism. These
include extreme prematurity, hypoxia, bleeding during pregnancy, Caesarean delivery,
maternal gestational diabetes, medication use (valproate), breech presentation and neonatal
encephalopathy.
A systematic review by De Cook et al. (2012) evaluated the role of endocrine disruptors such as
bisphenol A (BPA), phthalates, pesticides, and hazardous air pollutants (HAPs) in the
environment. The authors concluded that there was possibly a positive relationship between
exposure to pesticides in the atmosphere and the prevalence of ASD in that region. It appears
that individuals who were exposed to thalidomide prenatally were 50 times more likely to have
a child with ASD than mothers in the general population. VPA, an anti-epileptic drug, is another
teratogen and has been shown to increase the prevalence among those exposed by 8–18 times
compared to the general population
Out of the four studies that were reviewed, three reported an increased risk of autism in
children from mothers with a different ethnic origin, with one study indicating a greater risk for
immigrant mothers from East Asia
Four reviews suggest that both advanced maternal and paternal age are risk factors for
autism, with paternal age perhaps playing a more significant role. Fathers over the age of 50
have the greatest risk of having an offspring with autism compared to fathers below 30 years
of age
The most consistent and well-replicated finding has been that 25–50% of children
and adolescents with autism have elevated serotonin levels in blood and platelets
OT and arginine vasopressin (AVP) are important regulators of complex social behaviors. There
have been some reports of differences in levels of peripheral OT and AVP in children with
autism compared to age-matched controls.
Milestones are recognizable skills or abilities that have an expected range and order of
appearance, such as a child taking his first step around the time of his first birthday.
Identifying any significant variations from expected patterns, such as a child taking that first
step near his second birthday, is a key task for any practitioner. Knowing when a significant
variation in development has occurred improves diagnostic accuracy because DSM-5
specifically requires consideration of developmental stages
Five different milestone skill areas should be evaluated: gross/fine motor, visual motor problem
solving, speech and language, social/emotional, and adaptive skills
Gross motor skills are the most obvious to recognize because they involve crawling,
walking, running, and throwing
Visual motor problem solving describes a child’s physical interactions with the world. Fine
motor skills (using one’s hands and fingers) rely on visual input and generally progress at a
slower pace than gross motor skills. If the development of these milestones is delayed, it may
be because of impairments in cognitive, sensory, or motor abilities.
To be able to communicate, a person first must be able to receive input (process what is seen
and heard), understand the meaning of that input, then generate an expression of his thoughts
(translate thoughts into words, then express fluently). Delays in expressive language
milestones may be more apparent than receptive language delays, which may be more subtle
but when present may worsen an expressive language impairment
Social/emotional skills are the core elements of psychiatric functioning. Social skill
development is interactive and thus reliant on the presence of a responsive caregiver. A child’s
temperamental traits influence how he responds to routine activities, which influences how his
caregivers respond. Developing shared joint attention with another person by approximately
age 1 year is a key social milestone. Normal social and emotional development is most closely
linked with speech and language skills.
When you evaluate for the presence of an intellectual disability, adaptive milestones need to
be investigated. Standardized intelligence testing is no longer considered the sole basis for
diagnosing intellectual disability. Adaptive skills include infants learning to feed themselves or
dress themselves. For older kids, it involves self-protection and self-direction.
A child may acquire all his skills in the usual sequence but at a slower rate (a delay), may
acquire his skills at differential rates in different areas (a dissociation), or may achieve
milestones out of the usual order of acquisition (a deviation). Growth and development will
follow recognizable patterns, but it is not an exact script. It is our task to consider what would
constitute normal- range development.
Table 12-2 in the book shows normal-range developmental milestones and developmental
red flags that should trigger specialized assessments
*****************************************************************************
, RUTTER’S CHILD AND ADOLESCENT PSYCHIATRY
CHAPTER 51 AUTISM SPECTRUM DISORDER
ASD is characterized by impairments in reciprocal social communication and a tendency to
engage in repetitive stereotyped patterns of behaviors, interests, and activities. It arises from
atypical brain development. The etiology is likely multifactorial.
The clinical presentation can change over time, often in response to the demands of
the environment or in the presence of co-occurring conditions.
Many individuals with ASD have an early history of regression or a period of lack of progress
of language, of cognition more generally, or social behavior in the early preschool period
The clinical presentation of ASD is remarkably diverse usually with a combination of some
delayed/immature behaviors together with the emergence of more unusual behavioral profiles.
Some of the earliest social communication symptoms represent difficulties in joint attention,
eye contact, lack of social intention to communicate with others, lack of social imitative play
and fascination with sensory stimuli. Some symptoms of ASD are an exaggeration of delays
observed in typical development (lack of useful speech, limited symbolic, and imaginative play
skills) whereas other symptoms are quite distinct and are rarely (or only very transiently)
observed in the development of typical children (delayed echolalia and neologisms).
Cognitive difficulties are very common in individuals with ASD but with the broadening of the
diagnostic criteria for ASD, the proportion of individuals with intellectual disability has
declined
“Hyperlexia,” a remarkable ability to read but with little comprehension of content, is
sometimes observed in severely disabled individuals
Children with moderate to severe cognitive impairment at earlier developmental stages in the
preschool years often present with little or no speech and poor nonverbal communication. They
also tend to engage in repetitive play with sensory stimuli and can become quite upset by
stimuli from the environment such as the texture of certain clothes, some everyday noises, and
particular foods
With higher functioning or older individuals, speech and language are often present, grammar
and vocabulary may be age appropriate, but there remain difficulties in the social use of
communication. In addition to the sensory interests, higher functioning children and adolescents
with ASD often develop intense circumscribed interests that are observed in typically developing
children but are pursued in a solitary, non-social, manner
AS referred to individuals with characteristics of autism but without clinically significant
cognitive or language delay. PDDNOS referred to individuals with characteristics of autism but
not enough to qualify for a diagnosis of either autism or AS. Rett syndrome was a type of PDD
that was characterized by a period of normal development and then a very specific set of signs
and symptoms (e.g., hand wringing) with developmental regression. Disintegrative disorder was
a subtype of PDD characterized by normal development past 36 months of age at which point
the clinical presentation of autism would emerge
DSM-5 has revised the diagnostic criteria for ASD replacing a triad of impairments with
two behavioral domains—social communication and repetitive stereotyped behaviors.
Although delays in language acquisition are common in ASD, they are nonspecific and so have
been removed from the diagnostic criteria. Each domain includes different groups of
symptoms
, or sub-domains and can be represented dimensionally depending on the need for intervention
and support.
DSM-5 includes stereotyped and repetitive speech within the restricted/repetitive behaviors
domain and for the first-time sensory reactivity to aspects of the individual’s environment
has also been included
For an individual to meet criteria for a DSM-5 diagnosis of ASD, evidence of symptoms in all
three of the social-communication sub-domains and any two (or more) of the four restricted
and repetitive behavior sub-domains is required. For individuals who meet criteria for impaired
Social Communication in the absence of restricted and repetitive behaviors, a new diagnostic
category of Social Communication Disorder has been included in DSM-5. Impaired Social
Communication- non-verbal communication, developing and maintaining relationships, and
social-emotional reciprocity. Repetitive/Restrictive patterns of behavior- restricted and fixated
interests, excessive adherence to routine, stereotyped repetitive speech/motor/use of object,
hyper or hypo-reactivity to sensory input.
In the USA, a rapid increase in the number of children receiving a diagnosis occurred
once legislation for special schooling was introduced for autistic children
Parents often become concerned about the development of their children at 12–18 months of
age but children most commonly do not receive a diagnosis until 4 or 5 years of age. the
American Academy of Pediatrics (AAP) and the UK National Screening Committee do not
recommend universal screening. The AAP does suggest that surveillance for ASD should take
place at well baby visits at 6, 12, 18, and 24 months
No screening instrument currently available has sufficient sensitivity and specificity to be used
as a diagnostic instrument
Among all mental disorders, health care spending in the United States is the highest
for individuals with ASD, who had higher physician and outpatient visits as well as
greater prescribed medication use when compared to the non ASD pediatric
population
Zaroff and Uhm (2012) have reported higher rates of ASD among white Americans compared to
Hispanic individuals. Likewise, according to Bernier et al. (2010), white Americans receive a
diagnosis approximately a year and a half before African American children and two and a half
years before Latino children
The ToM (Theory of Mind) deficit may help our understanding of some of the behavioral
features of ASD including a lack of ability to generalize learned responses across settings and the
presence of repetitive and stereotyped behaviors. The “ToM” deficit focuses on aspects of the
social communication impairments and the inability to impute mental states either to oneself or
to others.
The WCC (Weak Central Coherence) Theory was formulated by Frith arguing that individuals
with autism demonstrated a local processing bias (and thus a WCC). The weak central
coherence theory attempts to explain how some people diagnosed with autism
can show remarkable ability in subjects like mathematics and engineering, yet
have trouble with language skills and tend to live in an isolated social world.
These perceptual abilities might also account for the extreme distress experienced by some
children with ASD at small changes in the environment.
Overall, for many individuals, there is a gradual reduction in autistic symptoms and an
improvement in adaptive abilities over time, but it is the variability in individual outcomes that
is
, most striking. The major predictors of better long-term outcome appear to be higher IQ and the
presence of useful speech before 5 years of age
Individuals with ASD appear to have higher rates than the general population of ADHD, mood
and anxiety disorders, obsessive compulsive disorder (OCD), Tourette’s Syndrome, Disruptive
Behavior Disorders/Oppositional Defiant Disorder. ADHD and anxiety disorders are probably the
two most common comorbid disorders
Recent family studies have used the baby sibling design, in which infant siblings of an older child
with autism are followed from birth. A combined analysis of many different samples reported
that the sibling recurrence risk is around 19% in siblings followed prospectively from birth. A
number of twin and family studies have also reported that sub-threshold autistic like traits occur
in the relatives of individuals with ASD more commonly than expected
ASD has a profound effect on fertility as people with ASD generally do not reproduce
The most common abnormalities involve chromosome 7q and 15q but given that there are so
many brain expressed genes it is not surprising that ASD can be associated with abnormalities at
many different loci. The well-replicated finding that between 5% and 15% of individuals with
ASD have either a single gene disorder or a chromosomal abnormality highlights the importance
of general medical screening and genetic testing as part of the diagnostic assessment. Many of
the genes associated with ASD are involved in maintaining the integrity of the synapse and DNA
structure within neurons. This provides some evidence that the genes involved in ASD are likely
to be part of one or more common pathways.
Many obstetric complications have been studied as possibly associated with autism. These
include extreme prematurity, hypoxia, bleeding during pregnancy, Caesarean delivery,
maternal gestational diabetes, medication use (valproate), breech presentation and neonatal
encephalopathy.
A systematic review by De Cook et al. (2012) evaluated the role of endocrine disruptors such as
bisphenol A (BPA), phthalates, pesticides, and hazardous air pollutants (HAPs) in the
environment. The authors concluded that there was possibly a positive relationship between
exposure to pesticides in the atmosphere and the prevalence of ASD in that region. It appears
that individuals who were exposed to thalidomide prenatally were 50 times more likely to have
a child with ASD than mothers in the general population. VPA, an anti-epileptic drug, is another
teratogen and has been shown to increase the prevalence among those exposed by 8–18 times
compared to the general population
Out of the four studies that were reviewed, three reported an increased risk of autism in
children from mothers with a different ethnic origin, with one study indicating a greater risk for
immigrant mothers from East Asia
Four reviews suggest that both advanced maternal and paternal age are risk factors for
autism, with paternal age perhaps playing a more significant role. Fathers over the age of 50
have the greatest risk of having an offspring with autism compared to fathers below 30 years
of age
The most consistent and well-replicated finding has been that 25–50% of children
and adolescents with autism have elevated serotonin levels in blood and platelets
OT and arginine vasopressin (AVP) are important regulators of complex social behaviors. There
have been some reports of differences in levels of peripheral OT and AVP in children with
autism compared to age-matched controls.
