Pediatrics: Evaluation of Developmental Concerns

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Pediatrics Evaluation of Developmental Concerns

• Brenda Beckett, PA-C

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Development

• Acquisition of motor and cognitive skills during
  development
• 5 major skill areas
• Gross motor
• Fine motor
• Personal/social
• Language
• Cognitive

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Basic Principles

• Development is continuous and proceeds
  cephalocaudal paralleling neuronal maturation
• Sequence of development is the same in all
  children, rate may vary
• Rate of attainment in one area may not parallel
  that in another
• Primitive reflexes must be lost before
  corresponding voluntary movements can be attained

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Developmental Delay

• Failure to reach developmental milestones at the
  expected age.
• Wide range of normal.
• Delays may be specific or global

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Newborns/Infants

• Primitive reflexes are mediated from the
  brainstem involuntary motor response to
  peripheral stimuli
• 7 major primitive reflexes
• Moro Disappears age 4-6 months
• Rooting 4-6 months
• Galants 2 months
• Grasp Palmar 3-4 mo, Plantar 6-8 months
• Placing variable
• Stepping 2 months
• Asymmetrical Tonic Neck 3-4 months

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Newborns/ Infants

• Postural Reactions occur between 2-9 months and
  help relate and orient body in relation to space
  and other body parts
• Righting Reaction maintains normal postural
  relationships during activities birth to 12 mo
• Parachute Reaction protects upper body from a
  fall 4 to 6 mo

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History

• Family history
• Pregnancy history
• Gestational age
• H/O seizures, meningitis, sepsis
• H/O feeding poorly or lack of growth
• Environment

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History

• In a patient with no evidence of delay
• Walk
• First word
• Current grade at school
• How is school going
• Repeated any grades
• Any resource help
• Problems with friends, family or teachers

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History with Delay

• Smile
• Rolled front to back
• Sat without support
• Walked
• Said first word with meaning
• Combined two words
• Evidence of regression

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Development Assessment

• Gross motor running, walking, sitting
• Fine motor transferring, pincher grasp, pencil
  control
• Language includes speaking and understanding
• Personal/social smile, drink from cup,
  cooperative play
• Cognitive comprehension, memory and logical
  reasoning

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Denver Developmental

• Screening test for children age birth to 6 years
• 125 tasks/ items
• Four areas gross motor, fine motor, language,
  personal/social
• 15 minutes to administer
• High sensitivity with limited specificity
  (potentially normal children will referred)

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Physical

• Growth parameters and rate
• Congenital anomalies
• Neuromuscular
• Chronic Illness
• Vision, Hearing, other screening tests

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Laboratory Tests

• Nonspecific
• CBC and differential and chem panel for chronic
  illness
• Lead, thyroid
• Chromosomes, metabolic screen
• MRI brain, EEG

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Medical Causes of Learning Disorders

• Intellectual Disability (ID)
• Autism Spectrum Disorders
• Neurologic Dysfunction
• Chronic Illness
• Genetic-familial
• Attention Deficit Disorder
• Memory Deficit

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Environmental Causes of Learning Disorders

• Social Dislocation
• Family Dysfunction
• Poor Learning Models
• Interpersonal or Psychiatric Factors
• Deprivation of Proper Care
• Adolescent Turmoil

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Language Disorders

• Expressive or receptive
• Global vs specific language delays
• Males 3-4 times more common
• Early intervention can improve sx and/or uncover
  other delays

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Language milestones

• Newborn alert to sound
• 2 months cooing
• 4 months orient to sound
• 6 months babbling
• 9 months understand no, mama-dada
• 12 months 1 step commands, 3 words
• 18 months points to body parts, 20 words
• 2 years 2 step commands, 50 words, gt50 ?
• 3 years listen to story, 3 word sentences,
  gt75?

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Danger Signals In Language

• Inconsistent/lack of auditory response
• No babbling by 9 months
• In intelligible words by 18 months
• Cant follow commands at 2 years
• Predominantly unintelligible at 3 years
• Dysfluency after 5 years

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Causes of Delayed Language

• Hearing impairment including recurrent OM with
  effusion
• Perinatal, neonatal risk include TORCH, LBW,
  prematurity, ototoxic drugs, low apgar, high
  bilirubin, ventilation
• CNS
• ID
• Global Delay
• Autism
• Disorders of language production, anatomic issues
• Trauma, infection
• Syndromes Fragile X, Williams, Waardenburg,
  Treacher-Collins
• Family history
• Environmental Deprivation

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Risk Factors for Reading Difficulties

• Family history of reading problems
• Early language delays
• Difficulties with sounds of words
• Poor phonemic awareness in kindergarten
• Limited understanding of letter-sound
  relationships
• Poor upper and lower case identification
• Lack of familiarity with book reading

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Intellectual Disability

• Significantly sub-average general intellectual
  functioning accompanied by significant
  limitations in adaptive functioning in at least
  two of the following skills areas communication,
  self-care, social skills, self-direction,
  academic skills, work, leisure, health and/or
  safety.

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Levels of ID

• DSM IV IQlt70
• mild 50-69
• moderate 35-49
• severe 20-34
• profound lt20
• Useful because emphasis on skills training, if
  gt50 benefit from academic training, lt50 benefit
  from skills training

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Epidemiology

• 2-3 overall
• 0.5 severe
• Prevalence of mild hard to ascertain, many lose
  diagnosis when become adults
• Mild account for at least 85

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Causes of ID

• Over 1000 causes
• Genetics and environment
• 3 most common identifiable causes are Fetal
  Alcohol Syndrome, Fragile X, Down Syndrome
• Others Decreased O2 at birth, malnutrition

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FAS

• Most common preventable
• Deficits in executive function, attention,
  learning, etc
• IQ 20-120
• Even with normal IQ have neurobehavioral deficits

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Fragile X

• Genetic defect on X chromosome
• Large ears, long narrow face, high palate,
  macro-orchidism, low muscle tone, loose
  connective tissue
• IQ 25-65

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Down Syndrome

• Trisomy 21
• Mild to moderate ID
• PE round face, macroglossia, epicanthal fold,
  single palmar crease, short limbs, short stature,
  and more
• Health concerns congenital heart defect, GERD,
  OM, thryoid dz, OSA

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ID Presentation

• Inversely proportional to severity
• Severe is usually recognized by 2 years, mild by
  4 years
• Language development is the best indicator of
  cognitive abilities
• Formal audiologic examination in all delayed
  children
• Mild ID attain early gross motor at normal age

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ID Diagnosis

• Medical cause of ID
• Helps with guidance, prognosis, recurrence risk
• Treat what you can metabolic causes
• Diagnose level of ID - difficult before age 3
• IQ and adaptive function
• Best when get to school age
• Often global developmental delay before school
  age

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Educational Services

• All special needs children receive necessary and
  appropriate educational services in the least
  restrictive environment
• Make referral for early intervention ASAP
• All families get IFSP and IEP
• Children with disabilities have a better outcome
  in regular classrooms as much as level of ID,
  comorbidities and behavior permit
• Extracurricular and social activities important
• May attend public school until age 21 years

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Health Maintenance

• Dental, vision, hearing, other screenings
• Sexuality, puberty and hygiene
• Nutrition and bowels
• Co morbidities
• Behavior
• Sleep
• Seizures
• Motor impairments
• Autism
• Others per diagnosis

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Prognosis

• Mild ID learn at 1/2 -2/3 normal rate, many
  gainfully employed with families
• Moderate ID learn at 1/3 -1/2 velocity and
  reading grade 1-3rd, sheltered workshops with
  constant supervision
• Severe ID life skills classes, round the clock
  supervision, increase in comorbidities

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Learning Problems

• 10 of children
• Physiologic versus environmental
• Psychiatric comorbidity common
• Problems with input, integration, storage, output

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DDX

• Specific learning difficulty eg math, reading,
  writing or spelling which may affect more than
  one area
• Attention deficit disorder
• Neurologic disorder
• Hearing or vision disability
• Borderline ID
• Medical
• Psychiatric

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Diagnosis

• History and physical to rule out any medical
• Labs mostly unnecessary but may include CBC,
  chemistry, chromosomes, lead, thyroid, HIV
• Hearing and vision
• EEG and neuro-imaging rarely
• Conners questionnaire
• Psychometric testing

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Cerebral Palsy

• Chronic disability characterized by aberrant
  control of movement or posture appearing before
  age 3.
• Spasticity and or involuntary movements of limbs
• Brain impairment
• Not episodic
• Not progressive

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Epidemiology

• 2.1/1000 live births
• Spastic CP is the most common (70)
• Causes birth asphyxia, prematurity, IUGR, TORCH,
  maternal drugs, twin pregnancy, traumatic
  delivery, hemorrhage with direct brain damage,
  meningitis, traumatic brain injury,
  near-drowning, tumors, radiation, heavy metal
  encephalopathy
• MULTIFACTORIAL

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Pathophysiology

• Different cerebral insults result in different
  types of CP depending on brain maturation
• Deep and superficial arterial blood vessel
  systems communicate via extensive anastomoses,
  these regress near term
• Boundary zones are prone to hypoxia/ischemia
• lt30 weeks subependymal germinal matrix near deep
  vessels prominent, as a fetus approaches term
  superficial cortex more important

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Pathophysiology

• Hypoxic damage in prematures tends to occur in
  the periventricular area with sparing of the
  cortex
• White matter that supplies the limbs lies closest
  to this area, intellect is often spared
• In term infants cortex is more often affected so
  that intelligence, seizures and the upper body
  are more often affected

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Types of CP

• Spastic CP muscle imbalance and secondary
  contractures (motor cortex)
• Dyskinetic CP sucking and swallowing difficulties
  with abnormal involutary movements
  (extrapyramidal motor sx)
• Ataxic CP hypotonia, tremors, severely delayed
  (cerebellum)

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Associated Symptoms

• Vision
• Hearing
• Impaired sensation
• Disorders of perception and language development
• Intelligence, learning disabilities
• Epilepsy
• Muscle contractures, bone growth discrepancies

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Dx/Treatment

• Dx History and PE. Can confirm with CT or MRI
• TRT OT, PT (ROM). Orthodic devices, speech,
  surgery

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Autism Spectrum Disorders

• Developmental disability
• Communication, social and behavioral domains are
  affected
• Includes Autism, Aspergers, PDD-NOS, others

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Facts

• Reliably diagnosed prior to age 3 years
• Can dx at age 2 with no functional language
• No means to prevent
• No fully effective treatment
• Early intervention improves function
• Characterized as a PDD in DSM IV

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Triad

• Qualitative impairments in social interaction
• Qualitative impairments in communication
• Restricted, repetitive and stereotypical patterns
  of behavior
• Delays must occur in at least one area before age
  3 years

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Epidemiology

• More common in males 31 but girls more severely
  affected
• 50 severe ID
• 30 mild ID
• 5 autism cases linked to Fragile X or other
  genetic causes
• Prevalence autism 2-5/1000 increasing incidence
• Autism spectrum 12-15/1000

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Etiology

• Unknown
• Highly heritable
• Complex genetic disorder
• Heterogeneous with multiple loci contributing to
  the phenotype
• Greater risk with increased parental age
• May be associated with perinatal conditions
• May be associated with other genetic disorder

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Etiology

• Platelet hyperserotonemia is common in autism
  unknown if this can be used to treat
• Structural brain abnormality with
• Increase in brain size
• Cerebellar area
• Amygdala which controls affect and response

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Environment

• Considerable disagreement about the magnitude and
  mechanism
• ? Mercury exposure with the vaccines or through
  pollution
• MMR ? Measles component
• No published evidence
• Previously it was felt due to emotional trauma
  from poor parenting
• ?prenatal/postnatal exposure to viral agent,
  chemicals, vaccines, abnormal immunological
  response or abnormal brain development

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Symptoms and Signs

• Usually first noticed by parents
• Poor eye contact, look through people, not aware
  of others, poor response to facial expression
• Unable to share pleasures, does not show typical
  interest in or play near peers, doesnt imitate,
  lack of pretend play, no imagination
• Delay in spoken language, impaired nonverbal
• Inflexible to changes in routine
• Unusual hand and finger mannerisms, rocking,
  flapping and lack of reaction to sensory stimuli

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Evaluation

• NO TEST OR X-RAY
• Careful H and P
• Cognitive evaluation
• Adaptive functioning
• Speech and language evaluation
• Occupational testing
• Physiotherapy testing
• Psychiatric evaluation

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Concerns if

• No babbling no gestures 12 months
• No single words by 16 months
• No 2 word by 24 months
• Aloofness
• Abnormal eye contact
• No interactive play
• Lack of peer interest

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Pharmacological treatment

• Aimed at treating the symptoms
• Risperidone is the only approved drug for
  children with autism indicated for
• Irritability
• Aggression
• Deliberate self injurious behaviors
• Temper tantrums
• Quickly changing moods
• Age 5-16 years

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Treatment

• OT
• PT
• Speech
• School
• Social Work

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Alternative Therapies

• Vitamin B12, MG, Cod Liver Oil, vitamin C
• Elimination diets
• Behavioral therapy applied behavioral analysis
  based on reinforcement-this works
• Educate work on strengths, abilities and
  functional level
• Art and Music therapy, Animal therapy
• Sensory integration

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Asperger Syndrome

• Social difficulties lack of empathy
• Repetitive behaviors
• Better linguistics and cognitive development than
  Autism