Disorders Diagnosed in infancy

,childhood & Adolescence.

Moges Ayehu, MD, Psychiatrist, HUCMHS

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 Common d/os
 Intellectual disability (MR)
 Learning d/s
 Motor skills d/os
 Communication d/os
 Autistic spectrum disorders
 ADHD
 Disruptive behavior d/os
 Tic d/os
 Elimination d/os
 Others d/os

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 Attention-Deficit/Hyperactivity
Disorder

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 ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER

Defn….Persistent pattern of inattention and/or

hyperactive and impulsive behavior that is
more severe than expected in children of that
age and level of development.
Most common psychiatric disorder among school-
age children

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 C/F… three prominent symptoms
1. Inattention
 (a) often fails to give close attention to details or
makes careless mistakes in schoolwork, work, or other
activities
 (b) often has difficulty sustaining attention in
tasks or play activities
 (c) often does not seem to listen when spoken to
directly
 (d) not follow instructions and fails to finish
schoolwork, chores, or duties in the workplace (not
due to oppositional behavior or failure to
understand instructions)

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 e/ often has difficulty organizing tasks and activities
f/ avoids/dislikes/reluctant to engage in tasks that
require sustained mental effort/such as schoolwork or
homework/
g/ loses things necessary for tasks or activities/e.g.
toys, school assignments, pencils books or tools/

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 C/F
h/ is often easily distracted by extraneous stimuli.
i/ is often forgetful in daily activities.

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 C/F
2. Hyperactivity
(a) often fidgets with hands or feet or squirms in
seat
(b) often leaves seat in classroom or in other
situations in which remaining seated is expected
(c) often runs about or climbs excessively in
situations in which it is inappropriate (in
adolescents or adults, may be linked to
subjective feelings of restlessness)

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 C/F
Cont…
(d) often has difficulty playing or engaging in leisure
activities quietly
(e) is often "on the go" or often acts as if "driven by a
motor"
(f) often talks excessively

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 C/F
3. Impulsivity
(g) often blurts out answers before questions have been
completed
(h) often has difficulty awaiting turn
(i) often interrupts or intrudes on others (e.g., butts into
conversations or games)

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 Epidemiology
 Population surveys suggest that ADHD occurs in most
cultures in about 5% of children and about 2.5% of adults.

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 Development and Course
• Many parents first observe excessive motor activity when the child is
a toddler, but symptoms are difficult to distinguish from highly
variable normative behaviors before age 4 years.
ADHD is most often identified during elementary school years, and
inattention becomes more prominent and impairing.
The disorder is relatively stable through early adolescence, but some
individuals have a worsened course with development of antisocial
behaviors.
In most individuals with ADHD, symptoms of motoric hyperactivity
become less obvious in adolescence and adulthood, but difficulties
with restlessness, inattention, poor planning, and impulsivity persist.

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 During adolescence, signs of hyperactivity (e.g.,
running and climbing) are less common and may be
confined to fidgetiness or an inner feeling of
jitteriness, restlessness, or impatience.

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 Risk and Prognostic Factors
associated with reduced behavioral inhibition, effortful
control, or constraint; negative emotionality; and/or
elevated novelty seeking
Very low birth weight (less than 1,500 grams) conveys
a two- to threefold risk for ADHD
History of child abuse, neglect, multiple foster
placements, neurotoxin exposure (e.g., lead), infections
(e.g., encephalitis), or alcohol exposure in utero.
ADHD is elevated in the first-degree biological
relatives of individuals with ADHD.

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 ADHD is associated with reduced school performance
and academic attainment, social rejection, and, in
adults, poorer occupational performance, attainment,
attendance, and higher probability of unemployment as
well as elevated interpersonal conflict.
Children with ADHD are significantly more likely
than their peers without ADHD to develop conduct
disorder in adolescence and antisocial personality
disorder in adulthood, consequently increasing the
likelihood for substance use disorders and
incarceration(imprisoned).
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 The risk of subsequent substance use disorders is
elevated, especially when conduct disorder or
antisocial personality disorder develops.
 Individuals with ADHD are more likely than peers to
be injured. Traffic accidents and violations are more
frequent in drivers with ADHD.

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 Peer relationships are often disrupted by peer rejection,
neglect, or teasing of the individual with ADHD.

On average, individuals with ADHD obtain less schooling,

have poorer vocational achievement, and have reduced
intellectual scores than their peers, although there is great
variability.

In its severe form, the disorder is markedly impairing,

affecting social, familial, and scholastic/ occupational
adjustment.

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 Treatment

 Stimulants
- amphetamines & amphetamine like substances
- Methylphenidate
 tricyclics –despiramine (?safety concern)
 antipsychotics
 modafinil –used for narcolepsy
 Behavioral therapy…positive and negative reinforcement
 Structure and routine home environment

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 Intellectual disability (Mental retardation)

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 C/F…
… Intellectual disability (intellectual developmental
disorder) is characterized by deficits in general mental
abilities, such as reasoning, problem solving, planning,
abstract thinking, judgment, academic learning, and
learning from experience.
The deficits result in impairments of adaptive
functioning,
 fails to meet standards of personal independence and
social responsibility in one or more aspects of daily life
 including communication, social participation, academic or
occupational functioning, and personal independence at home or in
community settings.

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 C/F…
Individuals with intellectual disability have scores of
approximately two standard deviations or more below
the population mean, including a margin for
measurement error (generally +5 points). On tests with
a standard deviation of 15 and a mean of 100, this
involves a score of 65-75 (70 ± 5).
The diagnosis should be before 18 years

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 C/F…
Factors that may affect test scores include practice effects
and the "Flynn effect' (i.e.overly high scores due to out-
of-date test norms).Wechesler Intelligence Scale for
children(WISC)… 1949, 74,91,2003, 2014…3 point IQ
increament/decade…
Possible reason for Flynn effect…Improve nutrition, a
trend toward smaller families, better education, greater
environmental complexities, familiar to test(repeat measure
…5-6 point increase in value), more stimulating
environment, decrease infection, heterosis

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 C/F…
IQ test scores are approximations of conceptual
functioning but may be insufficient to assess reasoning
in real-life situations and mastery of practical tasks.
For example, a person with an IQ score above 70 may
have such severe adaptive behavior problems in social
judgment, social understanding, and other areas of
adaptive functioning that the person's actual
functioning is comparable to that of individuals with a
lower IQ score.
 Thus, clinical judgment is needed in interpreting the
results of IQ tests.
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 Adaptive functioning
Involves three domains: conceptual, social, and
practical.
The conceptual (academic) domain involves
competence in memory, language, reading, writing,
math reasoning, acquisition of practical knowledge,
problem solving, and judgment in novel situations,
among others.
The social domain involves awareness of others'
thoughts, feelings, and experiences; empathy;
interpersonal communication skills; friendship
abilities; and social judgment, among others.
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 The practical domain involves learning and self-
management across life settings, including personal
care, job responsibilities, money management,
recreation, self-management of behavior, and school
and work task organization, among others

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 Psychiatric Symptoms of MR:
 Hyperactivity,
 short attention span
 Self injurious behavior,
 Stereotypic behaviors

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 Degree of Mental Retardation…Based on the severity
 Mild MR:
 IQ level 50-55 to 70%
Consists of 85%
are considered educable
 being able to attain about a grade 6 education.
 Moderate MR
 IQ 35-40 to 50-55%
 consists of 10%
 are considered trainable
 being able to attain about a grade 2 education.

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  Severe MR:
IQ 20-25 to 35-40%
consists of 3-4%
Academic level achieved: Below 1st grade.
Can learn simple tasks
can use coin machines; can take notes to stores when
shopping.
 Profound MR:
 IQ level below 20 or 25%
 consists 1-2%
Most lived in a highly structured and closely supervised
settings.
Dependent on others for money management

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 Epidemiology: Prevalence 1%.
Co morbidity: 2/3 of children and adults with
mental retardation have co morbid mental disorders.
The more severe the mental retardation the higher the
risk for other mental disorders.

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 Neurological disorders: Are increased in individuals
with mental retardation who also have known
neurological condition…Epilepsy
 Neurological impairment increases as intellectual
impairment increases.

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 Psychosocial syndromes: Negative self
image and poor self esteem are common features of
mildly and moderately mentally retarded person.
Communication difficulties further increases their
vulnerability to feelings of ineptness and frustration.

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Etiology:
1.Genetic factors:
I.Down syndrome
II. Fragile X syndrome
III. Prader Willi Syndrome
IV. Phenylketonuria
Hurler’s syndrome is one of the
mucopolysaccharidoses.
 William’s syndrome is a rare form of genetic
mental retardation caused by a deletion of part
of chromosome 23.
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 Prader-Willi syndrome is a genetic disorder caused by
a defect of the long arm of chromosome 15.
 Characteristically, children are underweight in infancy.
In early childhood, due to a hypothalamic dysfunction,
they start eating voraciously and quickly become
grossly overweight. Individuals with this syndrome
have characteristic facial features and present with a
variety of neurologic and neuropsychiatric symptoms
including autonomic dysregulation, muscle
weakness,hypotonia, mild to moderate mental
retardation, temper tantrums,violent outbursts,
perseveration, skin picking, and a tendency to be
argumentative,oppositional, and rigid.

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Fragile X syndrome is the most common form of inherited
mental retardation, with a prevalence of 1 in 1200 in males
and 1 in 2500 in females. long face, large ears ,and large
hands. Adult males also have enlarged testicles, due to the
elevated gonadotropin levels. Affected individuals and
female carriers have higher rates of OCD, ADHD,
dysthymia, anxiety, and antisocial personality disorder.

 Down syndrome is the most common genetic mental

retardation syndrome, occurring in 1 in 660 live births, but in
the majority of cases (94%), it is due to a de novo trisomy of
chromosome 21 and, as such, it is not inherited.

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 2. Acquired and developmental
factors
Prenatal period:
• Maternal chronic illness:
 Uncontrolled diabetes , anemia, hypertension
• long term use of alcohol and narcotic substance.
 Maternal infection during pregnancy
 Toxoplasmosis, Rubella, Cytomegalic inclusion Disease, Herpes
Simplex

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 Prenatal drug exposure: Opioids, heroin often
results in infants who are small for their gestational
age.
Postnatal infection: Meningitis, encephalitis.

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 Environmental and sociocultural factors:
Significant deprivation of nutrition and
nurturance,leads to long lasting damage of
physical and emotional development of the child.
Poor postnatal medical care, malnutrition,
exposure to such toxic substances as lead and
physical trauma are risk factors for mild MR.

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 Course & Prognosis:
The course of MR is influenced by environmental variables;
 parental intelligence,
 psychological resilience,
 material resources
 community supports.
The prognosis in MR may be expected to improve as therapeutic
and habilitative interventions become more available.
Family reactions may include: disappointment, denial, anger,
guilt, overprotectivness, infantalization, overinvolvment, or
detachment.

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  Comorbidity:
30-70% of all MR have a psychiatric disorder.
10% have the full criteria of ADHD.
PDDs are 100 times more likely to occur in children and
adolescents with MR(pervasive developmental disorders).
Depression and anxiety are as common as 25% in MR
patients.

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 Treatment:
Multimodal treatment with a developmental orientation is
optimal.
Behavioral modification is the mainstay of treatment in patients
with MR.
Also developmentally oriented psychotherapeutic interventions
may be effective to manage crises or to address long-term
psychosocial goals.
Depending on Axis I co morbidities, pharmacotherapy may be
essential.

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 Autism Spectrum Disorder

Autism : a mental condition characterized by

great difficulty in communicating with
others and in using language and abstract
concepts.

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 ASDS
Typical infants are very interested in the world and
people around them.
By the first birthday, a typical toddler interacts with
others by looking people in the eye, copying words
and actions, and using simple gestures such as
clapping and waving "bye bye".
But a young child with an ASD might have a very
hard time learning to interact with other people.

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 Some people with an ASD might not be interested in other people at
all.
 Others might want friends, but not understand how to develop
friendships.
 Many children with an ASD have a very hard time learning to take
turns and share—much more so than other children.
 This can make other children not want to play with them.
 People with an ASD might have problems with showing or talking
about their feelings. They might also have trouble understanding other
people's feelings.
 Many people with an ASD are very sensitive to being touched and
might not want to be held or cuddled.
 Self-stimulatory behaviors (e.g., flapping arms over and over) are
common among people with an ASD.
 Anxiety and depression also affect some people with an ASD.
 All of these symptoms can make other social problems even harder to
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manage.
 Autism spectrum disorder
Autism spectrum disorder encompasses disorders previously
referred to as early infantile autism, childhood autism,
Kanner's autism, high-functioning autism, atypical autism,
pervasive developmental disorder not otherwise specified,
childhood disintegrative disorder, and Asperger's disorder.

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 Associated Features Supporting
Diagnosis
intellectual impairment and/or language impairment
Motor deficits are often present, including odd gait,
clumsiness, and other abnormal motor signs (e.g.,
walking on tiptoes).
 Selfinjury (e.g., head banging, biting the wrist) may
occur, and disruptive/challenging behaviors are more
common in children and adolescents with autism
spectrum disorder than other disorders, including
intellectual disability.

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 Adolescents and adults with autism spectrum disorder
are prone to anxiety and depression.
Some individuals develop catatonic-like motor
behavior (slowing and "freezing" mid-action), but
these are typically not of the magnitude of a catatonic
episode.

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 Development and Course
Symptoms are typically recognized during the second
year of life (12-24 months of age) but may be seen
earlier than 12 months if developmental delays are
severe, or noted later than 24 months if symptoms are
more subtle.
Some children with autism spectrum disorder
experience developmental plateaus or regression, with
a gradual or relatively rapid deterioration in social
behaviors or use of language, often during the first 2
years of life.

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 Symptoms are often most marked in early childhood and
early school years, with developmental gains typical in later
childhood in at least some areas (e.g., increased interest in
social interaction).
Only a minority of individuals with autism spectrum
disorder live and work independently in adulthood; those
who do tend to have superior language and intellectual
abilities and are able to find a niche that matches their
special interests and skills.
However, even these individuals may remain socially naive
and vulnerable, have difficulties organizing practical
demands without aid, and are prone to anxiety and
depression.
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 Many adults report using compensation strategies and
coping mechanisms to mask their difficulties in public
but suffer from the stress and effort of maintaining a
socially acceptable facade

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 The best established prognostic factors for individual
outcome within autism spectrum disorder are presence
or absence of associated intellectual disability and
language impairment (e.g., functional language by
age 5 years is a good prognostic sign) and additional
mental health problems.
Epilepsy, as a comorbid diagnosis, is associated with
greater intellectual disability and lower verbal ability.

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 Risk to autistic and Prevalence
Advanced parental age
 Low birth weight
Fetal exposure to valproate
Heritability estimates for autism spectrum
disorder have ranged from 37% to higher than
90%, based on twin concordance rates.
~ 1% of the population
Four times more often in males than in
females(4M=1F)

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 Treatment
The goals of treatment for children with autistic
disorder are to target behaviors that will improve their
abilities to integrate into schools, develop meaningful
peer relationships, and increase the likelihood of
maintaining independent living as adults

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 Pharmacology
Stimulants
Antipsychotics
Special school
Speech therapy

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 Rett’s Syndrome
 Has only been seen in girls.
 Development is normal until 6-18 months, then
language and motor abilities are lost.
 Head growth decelerations
 Loss of purposeful hand movement
 Ataxia ,gait abnormality
 Hyperventilation
 Breath holdings

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 Thank You

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