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OBJECTIVES
o improve communication about patient types in mental hospitals
o describe essential features of full range mental disorders
o provide guidelines for diagnosis that would give information about treatment
and management decisions
CONSIDERATIONS
o dimensional approach to diagnosis
including:
false positive results
sharing of symptoms and risk factors of diseases apparent in
studies of co-morbidity
capture clinical reality, symptom heterogeneity within disorders
and sharing of symptoms across disorders
groups disorders into 2 types:
externalizing: prominent anxiety, depressive, somatic
symptoms
internalizing: impulsive, disruptive, with substance abuse
o developmental stage and lifespan
manifestations in individual happens during:
early
adolescent
young adulthood
adulthood
later life
o culture (dictate social, familial norms and values adapted by an individual in his
environment)
o gender difference
CLINICAL USE
o case formulation and definition of mental disorders
o diagnosis: provide help in prognosis, treatment plan and treatment outcomes
MENTAL DISORDER
-a syndrome characterized by clinically significant disturbance in an individuals cognition,
emotion regulation, or behavior that reflects a dysfunction in the psychological, biological, or
developmental processes underlying mental functioning
-usually associated with significant distress or disability in social, occupational, or other
important activities
ELEMENTS OF A DIAGNOSIS
1. DIAGNOSTIC (Dx) CRITERIA AND DESCRIPTORS
o Descriptors/Diagnostic features: gives an introduction of the diagnostic
chapter that can help support diagnosis
o Diagnostic criteria: guidelines for making diagnoses with clinical judgment
*DO: disorder(s)
NEURODEVELOPMENTAL DISORDERS (NDD)
o
Practical Domain
may function ageappropriately with
difference
(communication,
personal care and
school age children & adults:
conversation, language)
assistance
compared
to
age
mates
recreation
skills
difficulties in reading,
writing, arithmetic, time or age inappropriate emotion
resemble that of age
money
regulation and behavior
mates
gullible, risky behavior
needs support to raise a
family
Moderate
different from peers in
needs on going daily
individuals conceptual skills
social and communicative
assistance to complete
lag behind peers
behavior
conceptual tasks
preschoolers: slow
capacity for friendships and they can take care of
development of language
romantic relationships
eating, dressing,
and pre-acad skills
may not perceive or
hygiene etc. as an
school age children: slow,
adult
interpret social cues
they can have a job that
annual occurrence of
accurately
progress in reading, writing
require limited
and math
conceptual &
adults: academic skill
communication skills
maladaptive behavior is
development at
elementary level
present in a minority
Severe
limited attainment of
conceptual skills
little understanding of
language, numbers, time,
money, quantity
extensive support for life
long problem solving
identifiable in children 2
years of age
Provisional dx
IDD is a heterogeneous condition with multiple causes, there may be
associated difficulties in social judgment, risk-taking, interpersonal
relationships, emotions, motivations in school or work environments
metasyndrome: disorders that involve impaired brain functioning early
in life, analogous to dementia or neurocognitive disorders in later life
o severity: mild, moderate, severe, profound
Prevalence: 1% (approx. 6/ 1000)
Development & Course
Onset: developmental period; age and characteristic features at onset
depend on etiology and brain dysfunction severity
o IDD associated with genetic syndrome;
Characteristic physical appearance (Down
syndrome)
Characteristic behavioral phenotype (Lesch-Nyhan
syndrome)
o Acquired forms of IDD following meningitis, encephalitis or
brain injury (assignment of a neurocognitive disorder)
o Co-occurrence with other medical conditions such as
cerebral palsy and seizure disorder
o Generally non-progressive, with exceptions:
Recurrent worsening and stabilizing periods (Rett
syndrome)
Progressive worsening of intellectual function (San
Philippo syndrome)
Lifelong disorder, with changing severity levels over time
Other underlying medical, genetic and co-occurring conditions have
great influence over the course of the disorder
Risk and prognostic factors
Genetic syndromes caused by chromosomal disorders or
environmentally influenced
Perinatal causes: neonatal encephalopathy
Dx features
Principal ft: *see Crit A
Usually affects vocabulary and grammar that limit capacity
for discourse
Delayed onset of the childs first words and phrases, usually
with smaller vocabulary size, less complex sentence
structure with grammatical errors
Poor understanding of synonyms, multiple meanings and
word play
Risk and prognostic factors
Family history of language disorders
Shy and reticent to talk
Persistent preference of communication with familiar
individuals only
Evaluation
Synthesis of patient history
Direct clinical observation in different settings
Full language assessment
Standardized test scores to guide severity
ECG (presence of epilepsy)
Diff dx
Speech sound disorder
IDD
Epilepsy, acquired aphasia or Landau-Kleffner syndrome
Normal variations in language before 4 years of age; also,
take note of the dialects and the bilingualism of an individual
Hearing or other sensory impairment
Language regression (loss of speech and language) in a child
o younger than 3 years may indicate Autism
o older than 3 years may be a symptom of seizures
Comorbidity
Other NDD
2. CHILDHOOD-ONSET FLUENCY DO (STUTTERING)
Dx Criteria
A. Disturbances in fluency and time patterning of speech;
marked occurrences of the ff:
i. Sound/syllable repetition
ii. Sound prolongation
iii. Broken words
iv. Silent blocking (pauses in speech)
v. Circumlocutions
vi. Word production with excess physical tension
vii. Monosyllabic word repetitions
B. The disturbance causes anxiety about speaking and limits
effective communication
C. Onset: early developmental period
Dx features
Delay in language milestones
Use of overly formal language
May avoid social interactions
Development & Course
Rare in children younger than 4 yrs old
Manifests in children 4-5 yrs old
Milder forms manifest in early adolescence
Risk and prognostic factors
Family history of Autism, Communication Disorders or
Specific Learning Disorders
Diff dx
Other NDD
Social phobia
3. AUTISM SPECTRUM DO
Dx Criteria
A. Persistent deficits in social communication and interaction, manifested
currently or by history by the ff:
i. Deficits in social emotional reciprocity
Failure of conversation exchange
Reduced sharing of interests
Failure to initiate or respond to interaction
ii. Deficits in nonverbal communication
Poorly integrated verbal and nonverbal communication
Abnormalities in eye contact or body language
Deficits in using gestures
Total lack of facial expression
iii. Deficits in developing, maintaining and understanding relationships
Difficulties to adjust behavior to suit social context
Difficulty making friends
Absence of interest in peers
B. Restrictive, repetitive behavioral patterns; manifested by at least 2 of the
ff;
i. Repetitive motor movements, used objects or speech
ii. Inflexible adherence to routines, ritualized patterns; likes sameness
iii. Abnormal fixation to interests
iv. Hyper-/hypo reactivity to sensory input; excessive interest in sensory aspects of the
environment (taste, texture, smell)
C. Onset: early developmental period; no need to fully manifest until social
demands exceed capacities or may be masked by life strategies
D. Symptoms cause clinically significant impairment in social functioning
E. Disturbances not better explained by IDD or GDD; social communication
below the general developmental level
Specifiers
w/wo accompanying intellectual impairment
Social communication
restrictive
i.
ii.
iii.
iv.
Di Inflexibility causes interference
ffic with functioning
ulty
v.
in
initi
atin
g
soc
ial
inte
rac
tion
s
Toand
-fro
con
ver
sati
ons
fail
Att
em
pts
to
ma
ke
frie
nds
are
odd
D
i
f
f
i
c
u
l
t
y
i
n
s
w
i
t
c
h
i
n
g
b
e
t
w
e
e
n
a
c
t
i
v
i
t
i
e
10
s
vi. Problems with organization and
planning hamper independence
Level 2
Marked deficits in communication
Requiring Social impairments still appear even
Substantia
with support
l Support Reduced or abnormal responses to
social overtures from others
Odd nonverbal communication
Level 3
Severe deficits in communication
Requiring Skills that cause severe impairments
Very
in functioning
Substantia Very limited initiation and response to
l Support
interactions
Few words of intelligible speech
Responds only to direct social
approaches
Initiates approach only when need
arises (no reciprocal social
communication)
Dx features
The stage at which functional impairment becomes obvious will vary
according to characteristics of the individual and his environment
Manifestations also vary greatly depending on the severity of the
autistic conditions, developmental level and chronological age; hence
the term, spectrum
Encompasses disorders previously referred to as early infantile autism,
childhood autism, Kanners autism, high-functioning autism, atypical
autism, pervasive developmental DO (unspecified), childhood
disintegrative DO and Aspergers DO
Evidences in children and adult of ASD:
Children
Poor speech
comprehension,
echoed speech
Show little or no initiation
of interaction
No sharing of emotions
Reduced or absent
imitation of others
behavior
Lack of pointing, showing
or bringing objects to
share interests with
others
Failure to follow
someones gaze or
pointing
Often lack of shared
Shown in both
Absent, reduced, atypical use of
eye contact, gestures, facial
expression, body orientation,
or speech intonation
Failure to use expressive
gestures spontaneously in a
convo
Passivity and rejection of others
Inappropriate approaches that
may seem disruptive or
aggressive
Preference for solitary activities
with younger or older people
Desire to establish friendships
without a realistic idea of
what it entails
Use of you when referring to
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Adult
Overly literal language
Difficulties processing and
responding to complex
social cues
Suffer from the effort and
anxiety of consciously
calculating what is social
intuitive
Fluent language with the
difficulty in coordinating
nonverbal communication
with speech gives odd and
exaggerated body
language
Struggle to understand
appropriate behavior in a
given situation
Prevalence
1%; four times more prevalent in males than in females
girls without intellectual disability and language delays go
unrecognized
Development & Course
Symptoms typically recognized during 12-24 mos of age, earlier than
12 mos for severe cases, later than 24 mos for mild cases
Pattern of onset: early developmental delays or any losses of social or
language skills
Risk and prognostic factors
Nonspecific risk factors. i.e. advanced parental age, low birth weight,
fetal exposure to valproate
37-90% heritability, 15% associated with a known genetic mutation
presenting a lack of interest in social interaction, rapid deterioration in
social behaviors or use of language, often during the first 2 yrs of life
(red flag)
involve delayed language development, often accompanied by lack or
awkward social interactions
diagnosis of ASD can be difficult in preschoolers because children
have strong preferences and enjoy repetition of the things they like
(Crit B)
individuals may remain socially nave and vulnerable
most manifestations of Crit A and B are seen clearly in early
developmental period
Evaluation
Specifier: w/wo accompanying intellectual impairment:
understanding the often uneven intellectual profile of the person with
ASD necessary to interpret Dx fts; with separation of verbal and
nonverbal tests
Specifier: w/wo accompanying language impairment: no
intelligible speech, single words only, phrase speech, or fluent speech;
with separation of receptive and expressive language
Diagnoses are most valid when based on multiple sources of info;
including clinician, caregiver history, and self-report (if possible)
Diff dx
Rett syndrome
Selective mutism
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Other NDD
IDD without ASD
Schizophrenia
Childhood Disintegrative DO (total regression occurring after at least 2
years of normal development)
Comorbidity
Associated with intellectual impairment and Structural Language
DO (ability to understand and construct sentences with proper
grammar): noted in specifier
ADHD and ASD full criteria are met, it should be given together
Specific Learning DO in numeracy and literacy are common
Developmental Coordination DO
Association with acquired conditions noted in specifier include
epilepsy, sleep problems and constipation
Avoidant-restrictive food intake DO (extremely narrow preferences)
4. ATTENTION DEFICIT/HYPERACTIVITY DO (ADHD)
Dx Criteria
A. Persistent pattern of inattention and/or hyperactivity-impulsivity that
interferes with functioning or development seen for at least 6 mos to a
degree inconsistent with the current developmental level of the individual (5
symptoms are required for adults- 17 yrs old and above), char by ff;
Inattention
i. Misses details and inaccuracy of work
ii. Difficulty in remaining focused during lengthy works (e.g. lectures,
readings)
iii. Does not seem to listen when spoken to
iv. Does not follow through instructions and fails to finish work
v. Messy, disorganized, poor time management
vi. Reluctant to engage in tasks that require mental effort (preparing
reports, schoolwork)
vii. Often loses necessities (phone, eyeglasses, wallets, books)
viii. Easily distracted by external stimuli or unrelated thoughts
ix. Forgetful in daily activities (paying bills, running errands, doing chores)
Hyperactivity-impulsivity
i.
Often fidgets, taps hands/feet, squirms in seat
ii.
Often leaves seat when remaining seated is expected
iii.
Often runs about situation where it is inappropriate; feels restless
iv.
Unable to play quietly
v.
Is often on the go, uncomfortable in being still for extended time
vi.
Talks excessively
vii.
Blurts out answers before a question is completed, cannot wait for
their turn in the conversation, completes peoples sentences
viii.
Has difficulty in waiting for his turn
ix.
Social intrusiveness: interrupts and intrudes on others (butts into
conversation, uses other peoples things without asking, intrude into
the work of others)
B. Symptoms found above were present prior to age 12
13
14
15
Psychotic DO
Medication-induced symptoms of ADHD (bronchodilators, isoniazid,
neuroleptics resulting to akathisia, thyroid replacement medication)
diagnosed as specified or unspecified substance related DO
Comorbidity
Other NDD
OCD
Major depressive DO
Oppositional defiant DO (occurs to more than half of children)
Intermittent explosive DO
Anxiety DO
Depressive DO
Bipolar DO
Disruptive mood dysregulation DO
5. SPECIFIC LEARNING DO
Descriptor
DO with a biological origin, with the basis for abnormalities at the
cognitive level are associated with behavioral signs
The origin includes an interaction of genetic, epigenetic and
environmental factors, which affect the brains ability to perceive or
process verbal or nonverbal info efficiently and accurately
Dx Criteria
Persistence is defined as restricted progress in learning despite
providing help
A. Learning difficulty and use of academic skills that persisted for at least 6
mos, despite intervention that target ff difficulties:
i.
Reads words incorrectly, slowly and hesitantly; has difficulty
sounding words; frequently guesses words
ii.
May read accurately without understanding the sequence,
relationships, inferences and meanings of what is read
iii.
Poor spelling
iv.
Makes multiple grammatical or punctuation errors, with poor
paragraph organization that lacks clarity
v.
Poor understanding number sense, facts and calculations; gets
lost in arithmetic computation and may switch procedures
vi.
Difficulties with mathematical reasoning, severe difficulty applying
math concepts and procedures to solve quantitative problems
B. Academic skills are below the expected skill set for the individuals age
group; it could cause significant interference with academic or
occupational performance, or with daily life
C. Onset and recognition: school-age years (elementary) but not fully
manifested until the time when the affected kills exceed the individuals
capacities
D. The learning difficulties are not accounted for by IDD, uncorrected visual
or auditory acuity or other mental or neurological DO, psychosocial
adversity, and lack of language proficiency and educational instruction
Specifiers
With reading impairment:
o Word reading accuracy
o Reading rate and fluency
16
Reading comprehension
Dyslexia is used to refer to a pattern of learning difficulties
characterized by problems with word recognitions, poor
decoding and poor spelling abilities
With written expression impairment:
o Spelling, grammar and punctuation accuracy
o Clarity or organization of work
With mathematical impairment:
o Number sense, arithmetic memorization
o Accurate fluent calculation and math reasoning
o Dyscalculia is used to refer to a pattern of difficulties
characterized by problems in numerical information, arithmetic,
and fluent and accurate calculation performance
Severity:
o Mild: with some difficulties learning skills in 1 or 2 academic
domains; mild enough that the individual can compensate and
function well when provided with appropriate support especially
during school years
o Moderate: marked difficulties learning skills in 1 or 2 academic
domains; individual unlikely to become proficient without
intensive and specialized teaching; support should be reinforced
partly at school, then at home
o Severe: severe skill learning difficulties in several domains;
individual unlikely to learn skills without ongoing intensive,
individualized and specialized teaching; even with strong
support, the person may not be able to complete all activities
efficiently
o
o
Dx features
Defining characteristic: unexpected academic underachievement
Academic skills have to be taught and learned explicitly even if is
supposedly an acquired developmental milestone that emerge during
brain maturation
Disruption of the normal pattern of academic learning that may
impede learning
Dyslexia; difficulty in reading printed words as one of the most
common manifestation
Low academic achievement for age or average achievement sustained
through extraordinary levels of effort or support
Standard IQ scores of 78 or less (normal level of intellectual
functioning at IQ of 70)
Avoidance or reluctance to engage in activities requiring academic
skills is common
Episodic anxiety DO are common, including somatic complaints and
panic attacks
Others have above-average abilities in drawing, design and other
visuospatial abilities
Persistence of poor and inaccurate reading and comprehension
Cognitive testing, neuroimaging, or genetic testing are not useful for
diagnosis
Prevalence
5-15% in school children (mathematics), approx. 4% in adults
17
Pre-school children
Kindergarten-age
Primary grades
(grades 1-3)
Elementary school
children (grades 4-
6)
Middle grade
Adolescent/ Adult
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19
Dx features
Delayed achievement of motor milestones (crawling, sitting, walking)
Delayed in developing skills such as pedaling, buttoning shirts, completing
puzzles, using zippers
Awkward movement execution, slow and less precise work than of peers
Poor handwriting that affects legibility and speed of output
Additional, suppressed motor activity (e.g., choreiform movements of
unsupported limbs [mirror movements]) are referred to as neurodevelopmental
immaturities or neurological soft signs
Not diagnosed until the age of 5 yrs
No discrete sybtypes, but individuals may be predominantly impaired in gross
motor skills or in fine motor skills
Poor physical fitness, reduced physical activity, obesity
Poor self-esteem and sense of self worth
Prevalence
5-6%: 5-11 yrs old
1.8% in 7 yrs old are diagnosed with severe DCD, and 3% with probable DCD
males are more affected than females, ratio between 2:1 to 7:1
Development & Course
The course is variable but stable at least to a year of follow-up
There is long term improvement although coordination problems persist
through adolescence
Delayed motor milestones in early childhood; or recognition of difficulties
when the child attempts motor tasks (e.g., holding cutlery, playing games)
In middle childhood, there are difficulties with handwriting, building models,
assembling puzzles, and organizing belongings
In early adulthood, there is continuing difficulty in driving and using tools or
other complex/automatic motor skills
Inability to take note and write quickly affects performance in the workplace
Risk and prognostic factors
Prenatal and preterm alcohol exposure
Low birth weight
Impairments in visual-motor skills, perception and spatial mentalizing
Neural basis of DCD remains unclear, although cerebellar dysfunction has
been proposed
Individuals with DCD co-diagnosed with ADHD demonstrate impairment than
those without ADHD
Evaluation
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Comorbidity
50% co-occurrence with ADHD
disruptive and emotional behavior problems
specific learning DO for reading and writing
2. STEREOTYPIC MOVEMENT DO
Dx Criteria
A. Repetitive, driven and purposeless motor behavior (shaking, rocking, head
banging, hitting)
B. Repetitive motor behavior interferes with functioning and may result in self-injury
C. Onset: early developmental period
D. The repetitive motor behavior is not attributed to substance use or another
neurological condition that cannot be better explained by any mental disorder (e.g.
trichotillomania [hair-pulling DO], OCD)
Specifiers
w/wo self-injurious behavior
associated with a known medical or genetic condition, or environmental factor
or other NDD (e.g., Lesch-Nyhan syndrome, LDD, intrauterine alcohol
exposure)
Severity:
o Mild: symptoms easily suppressed by sensory stimulus or distraction
o Moderate: symptoms require explicit protective measures and
behavioral modification
o Severe: continuous monitoring to prevent serious injury (e.g., bruising
or erythema from hitting self, to laceration and amputation of digits,
retinal detachment from head banging)
Dx features
Repetitive behaviors are often individually patterned (signature move)
rhythmical movements of the head, hands or body without obvious function,
except that it might reduce anxiety in response to external stressors
Behavior may stop in developing children when attention is given to them or
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22
Diff dx
Normal development
ASD
Tic disorders
OCD (without the obsession, and nature of repetitive behaviors)
Other neurological and medical conditions
o Habits and mannerisms
o Paroxysmal dyskinesias
o Benign hereditary chorea
o Myoclonus
o Amphetamine abuse skin scratching
o Medication induced OCD
Comorbidity
Lesch-Nyhan syndrome
Rett syndrome
Fragile X syndrome
Cornelia de Lange syndrome
Smith-Magenis syndrome
3. TIC DISORDERS
Descriptor
A tic is a sudden, rapid, recurrent, non-rhythmic motor movement or
vocalization
Dx Criteria
Tourettes DO
A. Both multiple motor and one or more vocal tics have been present at some time
during illness
B. Tics may wax and wane in frequency but have persisted for more than a year
since onset
C. Onset: before 18 yrs old
D. Disturbance not attributable to the physiological effects of a substance (e.g.,
cocaine) or another medical condition (e.g., Huntingtons disease, post viral
encephalitis)
Persistent (Chronic) Motor or Vocal Tic DO
A. Single or multiple tics have been present during illness, but not both
B. Tics may wax and wane in frequency but have persisted for more than a year
since onset
C. Onset: before 18 yrs old
D. Disturbance not attributable to the physiological effects of a substance (e.g.,
cocaine) or another medical condition (e.g., Huntingtons disease, post viral
encephalitis)
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Provisional Tic DO
A. Single or multiple motor and/or vocal tics
B. Tics present for less than one year since first tic onset
C. Onset: before 18 yrs old
D. Disturbance not attributable to the physiological effects of a substance (e.g.,
cocaine) or another medical condition (e.g., Huntingtons disease, post viral
encephalitis)
E. Criteria never been met for Tourettes DO or persistent motor/vocal tic DO
Specifiers
With motor tics only/ with vocal tics only specifiers are only required for
Persistent (Chronic) Motor or Vocal Tic DO
Provisional dx
For an individual with motor and/or vocal tics of less than 1 year since first
onset, a provisional tic disorder diagnosis can be made
Dx features
Tic disorders are hierarchal in nature; Tourettes DO, followed by persistent
motor or vocal tic DO, followed by provisional tic DO, followed by other
specified and unspecified tic DO)
A tic disorder at one level of the hierarchy is diagnosed, a lower hierarchy
diagnosis cannot be made
Tics can include almost any muscle group or vocalization; certain tic
symptoms such as eye blinking or throat clearing are common among patient
populations
Tics are generally involuntary but can be voluntarily suppressed for a time
Tics wax and wane in severity, and some can have tic-free periods for weeks
or months
Types of tics:
o Simple motor tics are millisecond short; including eye blinking,
shoulder shrugging and extremity extentions
o Simple vocal tics include throat clearing, sniffing, or grunting caused
by the contraction of the diaphragm or oropharynx muscles
o Complex motor tics last longer (i.e., seconds) and often include a
combination or a simultaneous performance of simple tics
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a)
b)
c)
d)
e)
Prevalence
3 to 8 per 1000 school aged children for Tourettes DO
males are more affected than females with a ration of 2:1 to 4:1
common in childhood but transient in most cases
Development & Course
Typically begin in the pre-pubertal period, with an age ave. of 4-6 yrs
Peak of severity occurs between 10-12 yrs
Severity declines during adolescence
As children get older, they begin to report that their tics are associated with a
premonitory urge a somatic sensation that precedes the tic, and a feeling
of tension reduction following the expression of the tic
New onset of tic symptoms in adulthood is rare and is often associated with
excessive cocaine use or post viral encephalitis
Pre-pubertal children with tic disorders are more likely to experience ADHD,
OCD and Sep Anx DO
Teenagers and adults are more likely to experience the new onset of major
depressive DO, substance use DO, or bipolar DO
Risk and prognostic factors
Tics are worsened by anxiety, excitement, and exhaustion; better during calm,
focused activities
Observing and mimicking a gesture of another person is normal, which may
be incorrectly perceived by others as purposeful (problem with authority)
Obstetric complications such as old parental age, lower birth weight, and
maternal smoking during pregnancy are associated with worse tic severity
Race, ethnicity and culture may impact how tic DO are perceived and
managed, along with choices of help and treatment
Women with persistent tic DO may be more likely to experience anxiety and
depression
Diff dx
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26
i.
ii.
iii.
Examples:
Unspecified Tic DO
Unspecified ADHD
Unspecified Communication DO
c. UNDER IDD
i.
GDD (Global developmental delay)
Diagnosis reserved for individuals under 5 yrs old when clinical severity cannot be
reliably assessed
Diagnosed when an individual fails to meet expected developmental milestones in
functioning areas
Applies to individuals who are unable to undergo systematic assessment of
intellectual functioning
Requires reassessment
ii.
Unspecified Intellectual Disability
Reserved for individuals over 5 yrs old when assessment of severity degree is available
but is rendered impossible
Patient could have associated sensory of physical impairments (blindness, deafness),
locomotor disability, severe behavioral problems or co-occurrence of other mental
disorders
Exceptional category; needs reassessment
27