Developmental Disabilities in Infancy

& Childhood
VIDA T. DARIA, MD
Neurodevelopmental Pediatrician
DEVELOPMENTAL DISABILITIES
Newest morbidity in childhood disorders

WHO (2001) :
15-20% of the pediatric population have
developmental disabilities

In the US:
16.8% of children below 18 years old
DEVELOPMENTAL DISABILITIES
A group of disorders that reflects an underlying
static nervous system disorder

Chronic course with high likelihood of
functional limitations

Affecting their ability to learn, behave and
socialize

CLASSIFICATION OF DEVELOPMENTAL
DISABILITIES
I Disorders primarily manifesting as a motor handicap
Cerebral palsy
Neuromuscular disorders

II Disorders primarily manifesting as a cognitive
handicap
Mental Retardation

III Disorders having globally normal cognition but
showing specific deficits in processing
A. Peripheral disorders of processing
Hearing impairment
Visual impairment
B. Central processing disorders
ESTIMATED PREVALENCE OF DEVELOPMENTAL
DISORDERS & OTHER CHRONIC CONDITIONS
Disorder Cases per 1000
Attention deficit disorders 100.0
Speech & language disorders 70.0
Learning disorders 75.0
Asthma 29.3
Mental retardation 20.0
Arthritis 3.4
Cerebral palsy 2.0
Severe hearing impairment 1.5
Diabetes mellitus 1.0
Autism 0.4
Visual impairment 0.4
Gortmaker, Walker, et al 1990
Recognition of Developmental
Disabilities
Early identification attributed to both
physicians and parents attentive to
developmental progress of child

Most frequent complaint : failure of child to
attain developmental milestones at the
expected age

DISORDERS OF
LANGUAGE DEVELOPMENT
DISORDERS OF
LANGUAGE DEVELOPMENT
Most common reason for referral
child does not talk
May be the most reliable indicator of
developmental disorders of all kinds

ABSOLUTE INDICATIONS FOR
IMMEDIATE FURTHER EVALUATION
no babbling by 12 months
no gestures by 12 months
no single words by 16 months
no 2 word phrases by 24 months

ANY Loss of ANY Language or Social
Skills at ANY Age

CAUSES OF LANGUAGE DELAY
IN THE PRESCHOOL CHILD
1. Hearing impairment
2. Mental retardation
3. Autism
4. Developmental Language Disorders
5. Environmental Deprivation
6. Cerebral Palsy
7. Elective mutism

AUTISM SPECTRUM
DISORDERS
Group of related brain-based disorders
that affect a childs behavior, social, and
communication skills

Manifests from very early childhood and
lasts throughout the persons life




TRIAD OF IMPAIRMENTS
Impairment in Social Interaction
Do not relate to others or relate in deviant ways
Impairment in
Communication
Delay or total lack of
spoken language
Idiosyncratic language
Restricted & repetitive
patterns of interest,
behavior & activities
Stereotypic behaviors,
Adherence to rituals
Preoccupation with objects
Presence of only one impairment
does not diagnose autism
AUTISM SPECTRUM DISORDERS
Autistic disorder
A child meets
all the criteria
listed in DSM
IV
Problems with
language
skills
Problems
relating to
others
socially
Unusual or
repetitive
behaviors

Asperger syndrome
Early speech
development
relatively
normal
Speak in an
odd way
Make little eye
contact while
talking; trouble
w/ back-&-forth
conversation
Obsess over 1
or 2 topics

PDD-NOS
Atypical
autism
Show some
signs of
autism or
other PDD but
dont meet the
criteria to be
diagnosed
with one
specific
disorder


AUTISM SPECTRUM DISORDERS

How common are autism spectrum
disorders?
Reported number has increased since the
early 1990s
2010 1:110
May be due to many factors
increased awareness
more screening tools and services
changes in how ASD has been defined and
diagnosed
in the past, only those with severe autism
were diagnosed
What are the symptoms of ASD?
Social differences
doesnt snuggle when
picked up, but arches
back

no eye contact or very
little eye contact

no response to parents
smile or other facial
expressions

no joint attention
What are the symptoms of ASD?
Social differences
no appropriate facial
expressions

not perceive what
others might be
thinking or feeling by
looking at their facial
expressions

no concern for others

unable to make
friends
What are the symptoms of ASD?
Communication
differences
no single words by 15 months;
2-word phrases by 24 months
echolalia
no response to name being
called, respond to other
sounds
reversal of pronouns
doesnt seem to want to
communicate
doesnt start or cant continue a
conversation
What are the symptoms of ASD?
Communication differences
No imaginary play
good rote memory for numbers, songs,
TV jingles, or a specific topic
loses language milestones between the
ages of 15 to 24 months in a few
children
What are the symptoms of ASD?
rocks, spins, sways, twirls
fingers, or flaps hands
plays with parts of toys
likes routines, order, and
rituals
obsessed with a few
activities
splinter skills
doesnt cry if in pain; seem to
have no fear
very sensitive or not sensitive
at all to smell, sounds, light,
textures, and touch
unusual use of vision; gaze-
looks at objects from unusual
angles
may have unusual or intense
but narrow interests
Behavioral differences
What causes autism spectrum
disorders?
Exact cause is not known
In the past, poor, non-nurturing parenting
Genetics play a major role
Many chromosomes and gene abnormalities
have been identified, none of these are present
in all children with ASD
If a family has a child diagnosed with ASD,
chances that siblings may have some form of
ASD are 10 times higher than the general
population
What causes autism spectrum
disorders?
Environmental factors may play a secondary role

Current scientific proof does not support a link
between the measles-mumps-rubella (MMR)
vaccine or any combination of vaccines and
ASD

No proof to support a link between thimerosal
(mercury containing preservative) and ASD
What is known about brain development
in autism spectrum disorders?
The exact abnormalities in brain function that
cause ASD are not known
Research has shown that
Tendency for brains to grow faster than usual
in early childhood and then to grow more
slowly
Microscopic abnormalities in brain areas such
as the cerebellum, limbic system, and
cerebral cortex
What is known about brain development
in autism spectrum disorders?
Differences or abnormalities in some brain
chemicals in ASD

Some differences in function of certain parts of
the brain in autism
ASSOCIATED DISORDERS OR
SYMPTOMS
Health Problems
Seizures
seen in of children with ASD
Jerky movements of the arms or legs, loss of
consciousness, or brief staring spells

Nutrition or GIT disorders
Constipation, diarrhea, GER, or food selectivity

Tics
Seen in 6% with ASD
Involuntary brief motor movements or sounds



ASSOCIATED DISORDERS OR
SYMPTOMS
Behavioral Challenges
Attention and /or hyperactivity difficulties
Aggression and agitation
Obsessiveness or repetition of behaviors,
problems w/ transitions
Self-injury
Self-stimulation
Sleep disorders

ASSOCIATED DISORDERS OR
SYMPTOMS
Emotional Disorders
Anxiety disorders
General feelings of nervousness to intense fears and
panic attacks
Rapid heart rate and hyperventilation

Mood disorders (depression)
Lose interest in favorite activities, less active, sleep
problems
Hyperactive, irritable

ASSOCIATED DISORDERS OR
SYMPTOMS
Developmental disorders
Mental retardation or cognitive deficits
Occur in up to 2/3 of children
Child shows global delays (esp in self help and
problem solving skills) as well as delays in language
and social skills

Verbal apraxia
Affects muscles used in speech
Make trouble making even simple sounds
Others may just lack the oral motor skills to speak
easily
TREATMENT STRATEGIES
Developmental and
behavioral
interventions
Mainstay of
support
Developmentally
based int focus
on basic building
blocks
Behavior int
focus on
changing specific
behaviors & sx
Communication
interventions
Wide range of
severity
Therapy aimed
at using any
effective means
of providing
comm, at the
same time
working to
increase all
levels of
communication
Social skill
interventions
Stress the role
of the family in
teaching the
process of joint
attention and
social
communication
Opportunities to
play & interact
with typically
developing
peers
American Academy of Pediatrics
TREATMENT STRATEGIES
Sensory motor
interventions
Unusual sensory
aversions
SI procedures
such as deep
pressure,
brushing,
wearing a
weighted vest,
and swinging
Medicines
Have not shown
to consistently
improve the
core deficits of
ASD
No medicines
approved by the
FDA
Interfere with
learning, safety,
quality of life &
not responding
to behavioral
treatments
TREATMENT STRATEGIES
Complementary & Alternative Treatments (CAM)
Biological
Nutritional supplements
Dimethylglycine, vitamin B6 with magnesium, vitamin C, and
vitamin A
No scientific studies to look for toxic effects from long term
vitamin supplement use in young children
Diet changes
Gluten and/or casein free diet
Scientific studies being done
Adequate calcium, vit D, and protein must be provided

TREATMENT STRATEGIES
Complementary & Alternative Treatments (CAM)
Nonbiological
Auditory Integration training
Conditioned to tolerate certain sounds by listening to filtered
music in a sound booth 2x a day over a period of time
No scientific proof
Facilitated communication
Enlist a second person to help a child w/ ASD point to letters
or words on a communication board or type by holding the
childs hand or supporting the arm
DISORDERS OF
COGNITIVE DEVELOPMENT
Mental Retardation
Learning Disabilities


The cognitive development of a child who
fails academically or has to repeat a
grade should be evaluated.



DSM-PC - Child and Adolescent Version
1996

Poor School Performance/
School Failure
INTRINSIC
Child related causes
a. Learning Disabilities
b. ADHD
c. Mental Retardation
d. Sensory Impairment
e. Chronic Illness
EXTRINSIC
Environment related
a. Home
b. School Setting
c. Peer Dysfunction
MISCELLANEOUS
a. Lack of Motivation
b. Laziness/Fatigue
MENTAL RETARDATION
Significant sub-average intellectual
functioning that is accompanied by
significant limitations in adaptive
functioning in at least two skill areas, with
onset before age 18 years.

American Psychiatric Association DSM IV TR (2000)
American Academy on Mental Retardation (2002)

ESSENTIAL FEATURES of MR
1. Sub-average intellectual functioning
- IQ score of 70 or below on an individually
administered test
- In infants or younger children, a clinical
judgment of a significantly sub-average
intellectual functioning

2. Age of Onset
- Impairment resulting from an injury, disease
or abnormality existed before 18 years


DSM IV-TR
3. Concurrent deficits or impairment in
present adaptive functioning
- persons effectiveness in meeting the standards
expected for his age by his cultural group
- how well can an individual function and maintain
himself independently and how well they meet the
personal and social demands imposed on them by
their culture.

Areas: communication, self-care, home living, social and
interpersonal skills, use of community resources, self-
direction, functional academics, work, leisure, health
and safety


AREAS OF IMPAIRMENT
IN MENTAL RETARDATION
Learning
Capacity to learn
new information
Maturation
Rate of development
of self-help skills
Social Adjustment
Ability to adapt within the community
MR CLASSIFICATION
(DSM IV-TR)
Mild MR 50-55 to 70
Moderate MR 35-40 to 50-55
Severe MR 20-25 to 35-40
Profound MR Below 20-25
Unspecified MR Severity undetermined
MANAGEMENT
Treatment approaches
Education
Social and recreational activities
Behavior and emotional issues
Associated disabilities
LEARNING DISABILITIES



LEARNING DISABILITIES
Heterogeneous group of disorders
manifested by significant difficulties in the
acquisition and use of listening, speaking,
reading, writing, reasoning or math abilities.
Intrinsic to the individual
Presumed to be due to a CNS dysfunction
May occur concomitantly with other
handicapping conditions


Performance IQ
Verbal IQ
Reading
Mathematics
Spelling
Written expression
Achievement/
School performance
Intellectual/
Cognitive Potential
DYSLEXIA

Disorder in 1 or more of the basic skills in
reading, including decoding (letter-word
recognition, phonetic analysis) and
comprehension

Describes difficulty with language
processing and its impact on reading,
writing and spelling
RED FLAGS : LEARNING DISABILITY
READING - DYLEXIA
Slow in learning the connection of letters and sounds
Makes consistent reading errors :
letter reversals - b-d, p-q inversions m-w, p-d
transpositions - felt-left number reversals
word reversals - spaghetti stapeggi
Repeats, omits or adds words
Does not like reading avoids reading aloud
Problems in understanding what is read/ comprehension

SPELLING
Uses incorrect letters
Difficulty associating correct sound to letters
Reverses letter or entire word
b-d, p-q , was saw, solid-soiled

RED FLAGS : LEARNING DISABILITY
WRITING - DSYGRAPHIA
Cannot write on line
Poor hand writing
Errors made in copying written material
Mixes upper & lower case letters with word
Discrepancy between written and oral work


MATHEMATICS - DYSCALCULIA
Difficulty associating number name & written symbol
Transposes number sequences - 41-14, 28-82
Confuses columns and spacing
May be able to calculate in their head but not on paper



ATTENTION-
DEFICIT/HYPERACTIVITY
DISORDER
Neurobehavioral syndrome that begins in early
childhood

Diagnosed in individuals who display
developmentally inappropriate levels of
attention, hyperactivity, impulsivity, with
impairments in adaptive functioning at home,
school, and/or in social situations
RED FLAGS FOR ADHD
1. Fails to give attention to details or makes careless
mistakes
2. Has difficulty sustaining attention
3. Does not seem to listen
4. Does not follow through on instructions and fails to finish
tasks
5. Avoids or dislikes tasks that require sustained mental
effort
6. Has difficulty organizing tasks and activities
7. Often loses things
8. Is often forgetful
9. Is easily distracted

INATTENTION
HYPERACTIVITY
Core Problem : Impaired ability to inhibit
1. Fidgets with hands or feet, squirms in seat
2. Leaves seat in class or in other situations where
remaining seated is expected
3. Runs about or climbs excessively in situations in
which it is inappropriate
4. Difficulty paying attention or engaging in leisure
activities quietly
5. Talks excessively
6. On the go or acts as if driven by a motor

IMPULSIVITY
Core Problem : Impaired ability to inhibit
1. Blurts out answers before questions are
completed
2. Difficulty awaiting turn
3. Interrupts or intrudes on others


ATTENTION-
DEFICIT/HYPERACTIVITY
DISORDER
Some hyperactive-impulsive or inattentive
symptoms before 7 years
Some impairment from the symptoms is present
in 2 or more settings
Causes significant distress in learning and
adaptive functioning
Symptoms do not occur exclusively during the
course of a PDD, schizophrenia, or other mental
disorders
These behaviors are more
the RULE
rather than
the EXCEPTION
Attention-Deficit/Hyperactivity Disorder,
predominantly hyperactive
Attention-Deficit/Hyperactivity Disorder,
predominantly inattentive
Attention-Deficit/Hyperactivity Disorder,
combined type

ADHD SUBTYPES
CONDITIONS THAT MIMIC ADHD
NON-MEDICAL CAUSES
Age appropriate
Developmental variation
Boredom

NEUROLOGICAL DISORDERS
Seizure disorders
Neurodegenerative diseases



MEDICAL CONDITIONS
Chronic disease
Sensory impairments
Sleep disorders

GENETIC-METABOLIC
Syndrome-Fragile x, FAS
Thyroid disease


SUBSTANCE ABUSE DIS

NEURODEV PROBLEMS
Autism
Mental retardation
Learning difficulties
PSYCH DISORDERS
Mood disorders
Obsessive compulsive
Conduct disorders


FAMILY DISCORD
MANAGEMENT
Multimodal interventions
Counseling therapy (individual, family)
General classroom modifications
Learning disability intervention
Medication
Development of organizational and study
skills
DISORDERS OF MOTOR
DEVELOPMENT
CEREBRAL PALSY
One of the three most common life long
developmental disabilities

Umbrella term for a group of chronic neurologic
disorders manifested by abnormal control of
movement, beginning early in life, and not due to
underlying progressive disease

Primary lesion, anomaly or injury is static, the
clinical pattern of presentation may change with
time due to growth and developmental plasticity
and maturation of the central nervous system
ETIOLOGY & RISK FACTORS
Prenatal risk factors
chromosomal &
genetic causes
isolated brain
malformations
birth defect
syndromes
neuronal
migration
disorders
congenital
infections
intrauterine
ischemic events
Perinatal risk factors:
premature birth
perinatal asphyxia
perinatal infection
metabolic
disturbance
Postnatal risk
factors
toxic
infectious
meningitis
encephalitis
trauma
acute brain injury
TYPES OF CEREBRAL PALSY
DOWN SYNDROME
DOWN SYNDROME
One of the most frequently occurring
neurodevelopmental genetic disorders in children

Most common genetic cause of mental retardation

Accounts for 25% - 30% of persons with severe
mental retardation(IQ < 50) worldwide


Rogers, et al. Down Syndrome. In: Capute A, Accardo P, eds. Developmental Disabilities in Infancy
and Childhood. 2
nd
edition. Baltimore, Maryland: Paul H. Brookes Publishing Co., Inc., 1996: 221-239

DOWN SYNDROME
Constellation of symptomology that includes
developmental motor and language delay,
specific deficits in verbal memory, and cognitive
deficits

Increased risk of medical problems, which can
exacerbate their cognitive deficits

DIAGNOSIS
Diagnosis can generally be made
shortly after birth

Flat facial profile 90%
Poor moro reflex 85%
Hypotonia 80%
Hyperflexibility of joints 80%
Excess skin on back of neck 80%
Slanted palpebral fissures 80%
Dysplasia of pelvis 70%
Anomalous auricles 60%
Dysplasia of midphalanx 60%
of 5
th
finger
Simian crease 45%

Smith DW: Recognizable Patterns of Human
Malformations. 6
th
edition. Philadelphia,
Pennsylvania: Elsevier Inc. 2006.

GENETICS
DOWN SYNDROME
TRISOMY 21 TRANSLOCATION MOSAICISM
ASSOCIATED MEDICAL
CONDITIONS
Increased risk of
abnormalities in almost
every organ system

Awareness of the variety of
congenital and acquired
medical problems
associated with Down
syndrome






Roizen N. Down Syndrome. In: Batshaw M, ed. Children with Disabilities. 5th
edition. Baltimore, Maryland: Paul H. Brookes Publishing Co., Inc, 2002: 307-
318

ASSOCIATED MEDICAL
CONDITIONS
Associated Medical Conditions % affected
1. Congenital Heart Defect
2. Hearing loss
3. Ophthalmologic disorders
4. Endocrine abnormalities
5. Orthopedic abnormaliites
6. Dental problems
7. Epilepsy
8. Gastrointestinal malformations
9. Celiac Disease
10. Leukemia
66%
66%
60%
50 90%
16%
60 100%
6%
5%
5%
0.01%
Roizen N. Down Syndrome. In: Batshaw M, ed. Children with Disabilities. 5th edition. Baltimore, Maryland: Paul
H. Brookes Publishing Co., Inc, 2002: 307-318
GROWTH & DEVELOPMENT
Developmental Characteristics
1. Delayed and atypical speech & language
development, with expressive language being more
delayed than receptive language
2. Delayed cognitive development, usually within the
mild to moderate range of mental retardation
3. Delayed development of social skills
4. Delayed motor skills
5. Possible co-existence of other developmental
disorders, mental health or behavioral conditions
NEURODEVELOPMENTAL DISORDERS
Epilepsy
Age of onset of seizures: occur most commonly in
individuals < than 3 years and > than 13

Autism
Although autism is a relatively rare occurrence in people
with DS, there are an increasing number of reports of the
2 conditions co-existing

ADHD
Occurs in individuals with DS in the same frequency as it
does in the general population of individuals with MR


Roizen N. Down Syndrome. In: Batshaw M, ed. Children with Disabilities. 5
th

edition. Baltimore, Maryland: Paul H. Brookes Publishing Co., Inc, 2002: 307-
318
INTERVENTION
Once diagnosed, initiate assessments to
determine appropriate interventions to address
all developmental domains

Not necessary to wait for a developmental delay
to initiate an ongoing assessment & intervention
process

It is important for parents to understand that
children who receive intervention at a later age
may still benefit from the intervention

To enable the child reach
His optimal developmental potential
Early recognition and early intervention
THANK YOU
DEVELOPMENTAL CONCERNS
Physiologic stability
Dysmorphisms
Neurologic
syndromes
High risk neonate
Cong malformation
CNS dysfunction
Newborn
Infancy
Gross motor abilities
Disorders of
Motor development
Preschool
Language abilities
Disorders of
language devt.
School Age
School performance
Behaviors
Disorders of
Cognitive devt.
Behavior problems