DSM CHAPTER 12 DEVELOPMENTAL MILESTONES
• Milestones are recognizable skills or abilities that have an expected range and order of
appearance, such as... [Show More] 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 normalrange development.
• Table 12-2 in the book shows normal-range developmental milestones and developmental red
flags that should trigger specialized assessments
•
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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.
• GABA abnormalities in blood and platelets have been reported in individuals with autism.
Postmortem studies have identified widespread decreased number of GABA receptor binding
sites
• Observations of immune system abnormalities in ASD have been noted including fetal protein
reactive IgG antibodies in plasma from mothers of children with autism, maternal infection, and
dysregulated cytokine signaling
• Many different neuropathological changes have been described in postmortem samples
including macroencephaly, acceleration and deceleration in brain growth, increased neural
packing, decreased cell size in the limbic system and decreased Purkinje cell number in the
cerebellum. Abnormalities in organization of the cortical mini-column, representing the
fundamental subunit of vertical cortical organization may underlie the pathology of ASD and
result in altered thalamocortical organization, cortical disinhibition, and dysfunction of the
arousal-modulating system of the brain
• One of the most widely replicated findings in ASD is the increased head size and brain volume
(mainly due to increased volumes in frontal lobes and anterior temporal regions) most notably
in the preschool period
• In general, studies show that there are abnormalities in measures of white matter, particularly
in those pathways integrating higher order cognitive processes or complex social-emotional
processing
• Although there are no pathognomonic signs or symptoms of ASD, a number of the national
clinical guidelines provide detailed information about the types of signs and symptoms that are
commonly observed in preschool, school-aged children and adolescents with a possible ASD.
Several authors and guidelines highlight the so-called “Red Flags” for an immediate “fast track”
referral of certain “high risk” groups for an ASD specific assessment
• For children with a diagnosis of ASD, review and reassessment, especially at times of transition
(such as starting in education, changing school, onset of adolescence or emerging into early
adulthood) are likely to be beneficial either in anticipation of possible change in circumstances
or if there is evidence of deterioration, onset of a mental health problem, or a new disorder
such as epilepsy. Furthermore, some children and youth may not have been identified or
assessed during the early years, but additional developmental, social, and academic pressures or
the increased expectations of the school years may lead to symptoms and behaviors that
require a multidisciplinary ASD diagnostic assessment at a later stage
• The core components of an ASD diagnostic assessment include:
o an ASD specific developmental history using the framework of published internationally
agreed diagnostic criteria
o medical history including a prenatal and perinatal history, identification of any relevant
past and/or current health conditions and risk factors such as a history of possible
epilepsy, and family history to identify genetic disorders, recognized medical and mental
health conditions
o physical examination including an assessment for congenital anomalies, any evidence of
skin conditions, evaluation of growth, and measurement of head circumference.
o individual ASD specific assessments (through direct interaction and observation usually
in more than one setting). Observational assessment may include the use of an ASD-
specific tool such as the Autism Diagnostic Observation Schedule (ADOS) or the
Childhood Autism Rating Scale (CARS)
o other individual assessments depending on the clinical presentation
o individual assessments such as vision or hearing, cognitive, sensory, perceptual, motor
co-ordination, and psychological investigations to complete a skill- and need-based
profile
• The four most commonly used diagnostic instruments for ASD include three semi-structured
instruments for obtaining a developmental history (Autism Diagnostic Interview-Revised (ADI-R);
Diagnostic Interview for Social and Communication Disorders (DISCO) and Development,
Dimensional and Diagnostic Interview (3di) and one observational measure (the ADOS)
• In some parts of the world, comparative genomic hybridization arrays are now recommended
within professional clinical best practice guidelines to be used as first line investigations
especially in the presence of intellectual disability or dysmorphology
• Assessment of family strengths and needs and the social and cultural context for the child or
young person is important as part of a skill- and need-based assessment.
• Over time, intervention plans will change in response to the child’s developmental profile, their
circumstances and the onset of any additional physical and mental health disorders.
Management and support are likely to include a number of different agencies and professionals
working collaboratively
• The goals of interventions include:
o Reduce the core symptoms and behaviors of ASD
o Enable an individual to achieve their own potential
o Treat any co-occurring problems or symptoms that impair developmental progress or
cause significant distress for the affected individual and other family members or carers
o Treat any co-occurring problems or symptoms that impair developmental progress or
cause significant distress for the affected individual and other family members or carers
• National and professional organizations have published practice guidelines which provide
general and specific recommendations usually based on the best clinical practice
• Early intensive behavioral intervention (EIBI) is the most frequently evaluated intervention in
preschool children with ASD. These interventions are largely based on the model of Applied
Behavioral Analysis (ABA) principles and other comprehensive behaviorally and developmentally
based programmes for young children with ASD
• There is evidence that augmentative forms of communication such as the Picture Exchange
Communication System (PECS) can improve the communication skills of young children with ASD
and should be part of the comprehensive treatment plan
• Interventions such as sensory integration therapy (SIT) and auditory integration training (AIT)
have been proposed to alleviate hyper- or hyposensitivity to certain stimuli and to frequencies
and sounds
• Visual therapies, music therapy and use of restricted diets and dietary supplementation such as
omega-3 fatty acids, have also been used by families to treat both core ASD symptoms and
associated problems such as ADHD-like behaviors, gastrointestinal problems, and sensory
disturbance. The gluten free, casein free diet (GFCFD) is the most frequently implemented
restrictive dietary intervention for individuals with ASD.
• There is some evidence that vocational programs may increase employment success for some
individuals with ASD
• Systematic reviews have also demonstrated some evidence that the use of antipsychotic
medications (such as risperidone) can reduce repetitive behaviors in children and adolescents.
Considering the evidence for statistically significant adverse effects associated with
antipsychotics (see NICE CG 170, 2013 for an updated review) the NICE clinical guideline
development group did not recommend antipsychotic medications for the treatment of core
symptoms of ASD. There is now sufficient evidence to recommend that certain interventions
should not be used to treat core features of ASD. These include long-term chelation therapy,
hyperbaric oxygen, and secretin
• It is now widely recognized that children and young people with ASD have higher rates of cooccurring mental health disorders than individuals in the general population and children with
other disabilities. These include ADHD, Oppositional Defiant Disorder, anxiety, mood
disturbance, and obsessive-compulsive disorder
• There is evidence that a group or individual-based intervention adjusted to the needs of children
with ASD can be effective
• For the treatment of co-occurring ADHD, a combination of family and school-based behavioral
interventions could be instigated and later, if required, supported by a trial of medication.
However, the use of stimulants and other recommended second line medications for the
treatment of ADHD-like symptoms show that the response rate is lower than for children and
adolescents without ASD and with a higher rate of adverse side effects
• Antipsychotic medication has been used to ameliorate associated symptoms such as aggression
and irritability. The evidence appears to be consistent in demonstrating a positive impact on
these symptoms. The starting dose should be low, aiming for the minimum effective dose and
carefully monitoring for adverse effects with a plan for regular review and eventual
discontinuation
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CERTIFICATION REVIEW MANUAL CHAPTER 8 DELIRIUM AND NEUROCOGNITIVE DISORDERS
• The primary symptom associated with cognitive deficits involves either short term or remote
memory
• Rule out delirium before diagnosing dementia
• Neurocognitive evaluation- evaluates the relationship between the functional integrity of the
brain and human behavior. The process distinguishes behavioral changes resulting from central
nervous system disease or injury. The evaluation consists of psychometrically validated tests and
clinical interview (neuropsychological testing). The PMHNP combines this formalized testing
procedure with a comprehensive history and physical exam to rule out delirium and diagnose
dementia
o Comprehensive history: general medical conditions that can cause delirium include
sepsis, toxicity, nutritional deficiency, electrolyte disturbance, over/under stimulation.
Substance induced disorders, primary sleep disorder, primary mood or psychotic
disorder
• Delirium- a constellation of symptoms marked by an acute onset causing short term decline in
cognition with a disturbance in consciousness and inattention. Treatment should be supportive
in nature and target the underlying cause. Symptoms may take up to 6 months to resolve.
o Hypoactive- characterized by psychomotor retardation, apathy
o Hyperactive- characterized by psychomotor agitation, restlessness, hypervigilance
o Mixed- characterized by cycling through psychomotor agitation and retardation, from
apathy to hypervigilance.
o Risk factors- sensory impairment, polypharmacy, substance use disorder, pain acute
illness
o Often confused with dementia or depression
o Often assumed to be a worsening of psychotic symptoms
o Standardized assessment tool is the Confusion Assessment Methods Instrument [Show Less]
