APPROACH TO DEVELOPMENT

AL DELAYOmar Banat

Bashar Mudallal

Objectives◦Introduction: definitions, Transient and Persistent developmental delays

◦Developmental milestones: normal for age, warning signs.

◦Etiology: causes of global developmental delay, high risk children

◦Approach to a Child with Developmental Delay: History, Physical exm, Invistigations, Screening

◦Resources

Introduction

What is child development? ◦Child development refers to how a child becomes able to do more complex things as they get older. 

◦Growth only refers to the child getting bigger in size.

What is developmental delay? ◦Developmental Delay is when a child does not reach their developmental milestones at the expected times.

◦It is an ongoing major or minor delay in the process of development.

◦Delay can occur in one or many areas—for example, gross or fine motor, language, social, or thinking skills.

◦Developmental delay is not uncommon and occurs in 2-3% of all children. (~)

◦The term developmental delay is often used until the exact nature and cause of the delay is known.

◦The significance of the delay is often only determined by observing the child’s development over time.

Transient developmental delay◦Some children have a transient delay in their development.

◦For example, some extremely premature babies may show a delay in the area of sitting, crawling and walking but then progress on at a normal rate.

◦Other causes of transient delay may be related to physical illness and prolonged hospitalization, immaturity, family stress or lack of opportunities to learn.

Persistent developmental delay◦If the delay in development persists it is usually related to problems in one or more of the following areas: understanding and learning moving communication hearing seeing.

◦An assessment is often needed to determine what area or areas are affected.

◦Disorders which cause persistent developmental delay are often termed developmental disabilities.

Developmental disability◦Developmental disability is estimated to occur in 5-10% of the population with enormous psychological, emotional, and economic impact on the affected individuals and society.

◦Studies have shown that developmentally delayed children who are recognized at an early age receive more developmental optimization and greater gains than those who are identified later in life.

◦Early recognition of children with developmental problems is therefore important.

◦There are several disabilities in the classification of developmental delay:

Disability Description

Gross motor delay Significant delay in fine or gross motor skills with no impairment in other developmental areas

Developmental language disorders

Significant delay in receptive and/or expressive language skills with no delay in other developmental domains

Global developmental delay Significant delay in two or more developmental streams as measured by appropriate standardized screening tests. This term is reserved for children less than 5 years of age

Cerebral palsy Early-onset non-progressive motor impairment with associated abnormalities in muscle tone

Hearing sensory impairment A reduction in the ability to hear sound, ranging from slight to complete deafness

Disability Description

Visual sensory impairment An optically or medically diagnosable condition in the eye(s) or visual system that affects the development and normal use of vision, ranging from slight to complete blindness

Learning disabilities Significantly lowered individual achievement than predicted by intellectual ability as measured by standardized psycho-educational tests assessing reading, mathematics, or written expression

Pervasive developmental delay (PPD) / Autism

Impairments in social skills, communication skills and restrictive / repetitive patterns of behavior

Pervasive developmental disorders not otherwise specified / Autism Spectrum Disorder

Similar to PDD but not enough symptoms to warrant a PDD diagnosis

DEVELOPMENTAL

MILESTONES

What are developmental milestones?◦Developmental milestones are a set of functional skills or age-specific tasks that most children can do at a certain age range. 

◦A pediatrician uses milestones to help check how a child is developing. 

◦Although each milestone has an age level, the actual age when a normally developing child reaches that milestone can vary quite a bit. Every child is unique!

◦CDC’s milestone checklists

In these categories…◦Gross motor:  using large groups of muscles to sit, stand, walk, run, etc., keeping balance, and changing positions.

◦Fine motor:  using hands to be able to eat, draw, dress, play, write, and do many other things.

◦Language:  speaking, using body language and gestures, communicating, and understanding what others say.

◦Cognitive:  Thinking skills:  including learning, understanding, problem-solving, reasoning, and remembering.

◦Social:  Interacting with others, having relationships with family, friends, and teachers, cooperating, and responding to the feelings of others.

1 month

• Makes jerky, quivering arm thrusts

• Brings hands within range of eyes and mouth

• Moves head from side to side while lying on stomach

• Head flops backward if unsupported

• Keeps hands in tight fists• Strong reflex movements

Movement

Milestones

1 month• Focuses 8 to 12 inches (20.3 to

30.4 cm) away• Eyes wander and occasionally

cross• Prefers black-and-white or high-

contrast patterns• Prefers the human face to all

other patterns• Hearing is fully mature• Recognizes some sounds• May turn toward familiar sounds

and voices

Visual and

Hearing Milesto

nes

1 month • Prefers sweet smells• Avoids bitter or acidic

smells• Recognizes the scent of

his own mother’s breastmilk

• Prefers soft to coarse sensations

• Dislikes rough or abrupt handling

Smell and

Touch Milesto

nes

3 months

• Raises head and chest when lying on stomach

• Supports upper body with arms when lying on stomach

• Stretches legs out and kicks when lying on stomach or back

• Opens and shuts hands• Pushes down on legs when feet are

placed on a firm surface • Brings hand to mouth • Takes swipes at dangling objects with

hands • Grasps and shakes hand toys

Movement

Milestones

3 months

• Watches faces intently• Follows moving objects• Recognizes familiar objects and

people at a distance• Starts using hands and eyes in

coordination• Smiles at the sound of your voice • Begins to babble • Begins to imitate some sounds • Turns head toward direction of

sound

Visual and

Hearing Milesto

nes

3 months• Begins to develop a social

smile • Enjoys playing with other

people and may cry when playing stops

• Becomes more communicative and expressive with face and body

• Imitates some movements and facial expressions

Social and

Emotional

Milestones

7 months• Rolls both ways (front to

back, back to front)• Sits with, and then without,

support of her hands• Supports her whole weight

on her legs• Reaches with one hand• Transfers object from hand

to hand• Uses raking grasp (not

pincer)

Movement

Milestones

7 months

• Develops full color vision

• Distance vision matures

• Ability to track moving objects improves

Visual Milesto

nes

7 months

• Responds to own name • Begins to respond to “no”• Distinguishes emotions by

tone of voice• Responds to sound by

making sounds• Uses voice to express joy

and displeasure• Babbles chains of

consonants

Language

Milestones

7 months

• Finds partially hidden object

• Explores with hands and mouth

• Struggles to get objects that are out of reach

Cognitive

Milestones

7 months

• Enjoys social play• Interested in mirror

images• Responds to other

people’s expressions of emotion and appears joyful often

Social and

Emotional

Milestones

12 months

• Gets to sitting position without assistance• Crawls forward on belly by pulling with

arms and pushing with legs• Assumes hands-and-knees position• Creeps on hands and knees supporting

trunk on hands and knees• Gets from sitting to crawling or prone

(lying on stomach) position• Pulls self up to stand• Walks holding on to furniture• Stands momentarily without support• May walk two or three steps without

support

Movement

Milestones

12 months• Uses pincer grasp • Bangs two cubes

together• Puts objects into

container• Takes objects out of

container• Lets objects go

voluntarily• Pokes with index finger• Tries to imitate

scribbling

Milestones In Hand and

Finger Skills

12 months• Pays increasing attention to

speech• Responds to simple verbal

requests• Responds to “no”• Uses simple gestures, such as

shaking head for “no”• Babbles with inflection• Says “dada” and “mama”• Uses exclamations, such as “oh-

oh!”• Tries to imitate words

Language

Milestones

12 months

• Explores objects in many different ways (shaking, banging, throwing, dropping)

• Finds hidden objects easily• Looks at correct picture when

the image is named• Imitates gestures• Begins to use objects correctly

(drinking from cup, brushing hair, dialing phone, listening to receiver)

Cognitive

Milestones

12 months

• Shy or anxious with strangers• Cries when mother or father leaves• Enjoys imitating people in play• Shows specific preferences for certain people and

toys• Tests parental responses to his actions during

feedings (What do you do when he refuses a food?)

• Tests parental responses to his behavior (What do you do if he cries after you leave the room?)

• May be fearful in some situations• Prefers mother and/or regular caregiver over all

others• Repeats sounds or gestures for attention• Finger-feeds himself• Extends arm or leg to help when being dressed

Social and

Emotional

Milestones

2 years

• Walks alone• Pulls toys behind her while walking• Carries large toy or several toys

while walking• Begins to run• Stands on tiptoe• Kicks a ball• Climbs onto and down from

furniture unassisted• Walks up and down stairs holding

on to support

Movement

milestones

2 years

• Scribbles spontaneously

• Turns over container to pour out contents

• Builds tower of four blocks or more

• Might use one hand more frequently than the other

Milestones in hand and

finger skills

2 years

• Points to object or picture when it’s named for him

• Recognizes names of familiar people, objects, and body parts

• Says several single words (by fifteen to eighteen months)

• Uses simple phrases (by eighteen to twenty-four months)

• Uses two- to four-word sentences• Follows simple instructions• Repeats words overheard in

conversation

Language

milestones

2 years

• Finds objects even when hidden under two or three covers

• Begins to sort by shapes and colors

• Begins make-believe play

Cognitive

milestones

2 years

• Imitates behavior of others, especially adults and older children

• Increasingly aware of herself as separate from others

• Increasingly enthusiastic about company of other children

• Demonstrates increasing independence

• Begins to show defiant behavior• Increasing episodes of separation

anxiety toward midyear, then they fade

Social and

emotional

milestones

3-4 years

• Hops and stands on one foot up to five seconds

• Goes upstairs and downstairs without support

• Kicks ball forward• Throws ball overhand• Catches bounced ball most of

the time• Moves forward and backward

with agility

Movement

milestones

3-4 years

• Copies square shapes• Draws a person with

two to four body parts• Uses scissors• Draws circles and

squares• Begins to copy some

capital letters

Milestones in hand and

finger skills

3-4 years

• Understands the concepts of “same” and “different”

• Has mastered some basic rules of grammar

• Speaks in sentences of five to six words

• Speaks clearly enough for strangers to understand

• Tells stories

Language

milestones

3-4 years• Correctly names some colors• Understands the concept of

counting and may know a few numbers

• Approaches problems from a single point of view

• Begins to have a clearer sense of time

• Follows three-part commands• Recalls parts of a story• Understands the concept of

same/different• Engages in fantasy play

Cognitive

milestones

3-4 years

• Interested in new experiences• Cooperates with other children• Plays “Mom” or “Dad”• Increasingly inventive in fantasy play• Dresses and undresses• Negotiates solutions to conflicts• More independent• Imagines that many unfamiliar images may be “monsters”

• Views self as a whole person involving body, mind, and feelings

• Often cannot distinguish between fantasy and reality

Social and

emotional

milestones

4-5 years• Stands on one foot for ten seconds or longer

• Hops, somersaults

• Swings, climbs• May be able to skip

Movement

milestones

4-5 years

• Copies triangle and other geometric patterns

• Draws person with body• Prints some letters• Dresses and undresses without

assistance• Uses fork, spoon, and

(sometimes) a table knife• Usually cares for own toilet

needs

Milestones in hand and

finger skills

4-5 years

• Recalls part of a story

• Speaks sentences of more than five words

• Uses future tense• Tells longer stories• Says name and

address

Language

milestones

4-5 years

• Can count ten or more objects

• Correctly names at least four colors

• Better understands the concept of time

• Knows about things used every day in the home (money, food, appliances)

Cognitive

milestones

4-5 years

• Wants to please friends• Wants to be like her friends• More likely to agree to rules• Likes to sing, dance, and act• Shows more independence and may

even visit a next-door neighbor by herself

• Aware of sexuality• Able to distinguish fantasy from

reality• Sometimes demanding, sometimes

eagerly cooperative

Social and

emotional

milestones

What are the Warning signs of a physical

developmental delay ?

Newborn to 2 months

after 2 months, doesn't hold his head up when you pick him up from lying on his backafter 2 months, still feels particularly stiff or floppy

after 2 months, overextends his back and neck (as if he's pushing away from you) when cradled in your armsafter 2 or 3 months, stiffens, crosses, or "scissors" his legs when you pick him up by the trunk

3 to 6 months

by 3 or 4 months, doesn't grasp or reach for toys

by 3 or 4 months, can't support his head well

by 4 months, isn't bringing objects to his mouth

by 4 months, doesn't push down with his legs when his feet are placed on a firm surfaceafter 4 months, still has Moro reflex (when he falls backward or is startled, he throws out his arms and legs, extends his neck, and then quickly brings his arms back together and begins to cry)

3 to 6 months

after 5 or 6 months, still has the asymmetrical tonic neck reflex (when his head turns to one side, his arm on that side will straighten, with the opposite arm bent up as if he's holding a fencing sword)by 6 months, can't sit with help

after 6 months, reaches out with only one hand while keeping the other fisted

doesn't roll over in either direction (back to front or front to back) by 5 or 6 months

7 to 9 months

at 7 months, has poor head control when pulled to a sitting position

at 7 months, is unable to get objects into his mouth

at 7 months, is not reaching for objects

by 7 months, doesn't bear some weight on his legs

by 9 months, can't sit independently

9 to 12 months

after 10 months, crawls in a lopsided manner, pushing off with one hand and leg while dragging the opposite hand and legat 12 months, is not crawling

at 12 months, can't stand with support

13 to 24 months

by 18 months, can't walk

after several months of walking, doesn't walk confidently or consistently walks on toesafter his second birthday, is growing less than 2 inches per year (get more on a normal growth rate)

36 months

falls frequently or is unable to use the stairs

drools persistently

can't manipulate small objects

ETIOLOGY

Why is finding a cause important?◦ Establishing a cause has many benefits for the child and

family and improves overall quality of life:

◦ The family gains understanding of the condition, including prognostic information.

◦ Lessens parental blame.

◦ Ameliorates or prevents co-morbidity by identifying factors likely to cause secondary disability that are potentially preventable e.g. surveillance of other systems such as vision and hearing.

◦ Appropriate genetic counselling about recurrence risk for future children and the wider family.

◦ Accessing more support (e.g. within education services and specific syndrome support groups).

◦ To address concerns about possible causes e.g. events during pregnancy or delivery.

◦ Potential treatment for a few conditions.

Causes of Global Developmental Delay

◦Global developmental delay can be the presenting feature of a huge number of neurodevelopmental disorders (from learning disability to neuromuscular disorders).

◦It is not possible to provide an exhaustive list.

◦Careful evaluation and investigation can reveal a cause in 50-70% of cases.

◦This leaves a large minority where the cause is not determined.

◦It is still useful to investigate globally delayed development whatever the age of the child (occasionally older children with significant disability may not have been investigated adequately)

Environmental Factors that May Place a Child at Risk

◦Living in families that are at lower socioeconomic levels;

◦Living in families with varied cultural backgrounds;

◦Living in families classified as dysfunctional;

◦Being born to teenage mothers or mothers more than forty years old;

◦Growing up in homes where English is not the primary language spoken: (racism?)

◦Being exposed prenatally to viruses, drugs, or alcohol;

◦Being born into families with other children who have developmental delays;

◦Being born to mothers who were malnourished during pregnancy;

◦Being born to mothers who have diabetes, thyroid disorders, syphilis, or other viral infections.

OUR APPROACH

An Approach to a Child with Developmental Delay◦A child’s development is a dynamic process, and

assessment at any point in time is merely a snap shot of the bigger picture and should be interpreted in the context of the child’s history from conception to the present.

◦While a child may appear to have normal development for the first twelve months of life, a deviation in the course of the child’s development in subsequent years is indicative of an underlying disability.

◦ It is important to keep this in mind as you assess a child, and to keep reassessing children in subsequent office visits.

◦Developmental assessment involves three aspects: screening, surveillance, and definitive diagnostic assessment.

Developmental Assessment

◦ Developmental screening is identifying children who may need more comprehensive evaluation. It is a brief assessment procedure designed to identify children who should receive more intensive diagnosis or assessment. This is accomplished in the pediatrician’s office through thorough history taking +/- the use of screening tools such as the Denver or Bayley Scales of infant development.

◦ Developmental surveillance is a continuous process whereby the child is followed over time to pick up on subtle deficiencies in the child’s developmental trajectory. The components of developmental surveillance include eliciting and attending to parental concerns, obtaining a relevant developmental history, observing the child’s development in the office and referring for further assessment of development by other relevant professionals such as OT/PT for motor developmental concerns or hearing tests for concerns with language acquisition.

◦ Diagnostic assessment is performed on a child who has been identified as having a potential problem. This step requires extensive involvement of various team players such as a psychologist, educator, social worker, developmental pediatrician, geneticist, and/or other medical professionals.

History◦To perform a developmental assessment, a detailed history from conception to the present is required to assess developmental level.

◦Knowing the appropriate milestones is key to this assessment.

◦Any signs of developmental regression should be regarded as a medical emergency and an urgent medical workup is indicated.

◦An underlying etiology for developmental delay should be sought through attention to the following clues on history:

Prenatal History

◦Complications◦Prenatal diagnoses made (eg. Down Syndrome)

◦Infections (eg. TORCH)◦Exposures (eg. Fetal Alcohol Syndrome)

Obstetrical History

◦Complications◦APGAR scores◦Infections (eg. Group B Strep)◦Seizures◦Hearing test performed◦Newborn screening performed

Past medical history and medications◦Ototoxic antibiotics eg. Gentamicin

◦Frequent ear infections may lead to effusions affecting hearing

Behavior since birth

◦Behavioral disturbances – aggression, self injury, defiance, inattention, anxiety, depression, sleep disturbances, stereotypic behaviors, poor social skills, hyperactivity, difficult temperaments

Family History

◦Relatives with developmental delay, genetic abnormalities, syndromes

◦Consanguinity

Social History

◦Evidence of neglect or abuse which may have a negative influence on development.

◦Primary languages. ESL children may have relative delay in English language acquisition.

◦In children with a previously identified delay it is important to assess the resources already accessed to support the family such as personal tutors in the educational system, OT/PT for speech and language therapy,etc. The “Infant development program” is a regional resource supplying support to children until age 3. The “At home” program is a federal incentive to provide financial support and respite care to families with an affected child.

Screening Tools

◦There are various screening instruments used for assessing developmental.

◦The Denver II assesses gross motor, fine motor, adaptive and social skills.

◦It is designed for children between the ages of 0 and 6.

◦Similar tools are the “Ages and Stages” questionnaires and the Bayley infant development scales.

Physical Examination

◦A thorough physical examination is important in the assessment of a developmentally delayed child.

◦Characteristic findings on physical exam may provide clues as to the cause of the developmental delay.

◦Some clinical signs and their corresponding clinical significance are listed below:

Growth Parameters

◦Microcephaly: eg in Rett’s Disorder◦Macrocephaly: eg in hydrocephalus◦Short stature: Turner syndrome, Williams syndrome

◦Obesity: Prader-Willi syndrome, Beckwith-Wiedemann syndrome

Head and Neck

◦Flat occiput: Down syndrome, Zellweger syndrome

◦Prominent occiput: trisomy 18

◦Craniosynostosis: Crouzon syndrome, Pfeiffer syndrome

◦Midface hypoplasia: Fetal Alcohol Syndrome (FAS), Down syndrome

◦Prominent nose and chin: Fragile X syndrome

◦Round facies: Prader-Willi syndrome

Head and Neck

◦Triangular facies: Turner syndrome

◦Hypertelorism: Fetal hydantoin syndrome

◦Hypotelorism: maternal PKU effect◦Brushfield spots: Down syndrome◦Prominent eyes: Beckwith-Wiedemann syndrome

◦Lisch nodules: neurofibromatosis

Head and Neck

◦Large pinna: Fragile X syndrome◦Malformed pinna: Treacher Collins syndrome, CHARGE association

◦Broad nasal bridge: Fragile X syndrome

◦Low nasal bridge: Down syndrome◦Long philtrum: FAS

Head and Neck

◦Cleft lip and palate: may either be isolated or part of a syndrome

◦Micrognathia: Robin sequence◦Macroglossia: Beckwith-Wiedemann syndrome

◦Abnormal hair whorls: Down syndrome

◦Webbed neck: Turner syndrome

Genitourinary

◦Macroorchidism: Fragile X syndrome

◦Hypogonadism: Prader-Willi syndrome

Extremities

◦Small hands: Prader-Willi syndrome

◦Clinodactyly: trisomies including Down syndrome

◦Transverse palmer crease: Down syndrome

Skin

◦Nail hypoplasia or dysplasia: FAS◦Facial port wine hemangioma: Sturge-Weber syndrome

◦Café au lait spots: Neurofibromatosis

◦Ashleaf spots: Tuberous Sclerosis

Neurological Exam

◦Cranial nerves

◦Specific vision tests: red reflex, normal fundi, response to visual stimuli, field of vision

◦Specific auditory tests: response to auditory stimuli

◦Receptive or expressive language delay

◦Abnormal speech (eg. articulation)

◦Persistently present Babinski response (older than 2 years of age)

Neurological Exam

◦Hyper- or Hypotonia◦Sensory◦Motor strength◦Gait◦Deep tendon reflexes◦Primitive reflexes – Moro, Gallant◦Postural reflexes – propping response

Investigations: Genetics◦Karyotyping to assess for chromosomal abnormalities

◦FISH analysis to assess for microdeletions

◦Many of these investigations will be performed through specialist referral. Medical Genetics consultation should be done at this time.

Endocrinology

◦TSH, free T4◦Referral to endocrinology should be considered.

Metabolic

◦Metabolic screening – glucose, electrolytes, serum lactate, ammonia, liver function tests, pyruvate, albumin, triglycerides, uric acid, serum quantitative amino acids, urine organic acids, acylcarnitines, creatine phosphokinase (if suspecting myopathy)

◦Referral to metabolic diseases specialists should be considered.

Neurology

◦EEG◦Head CT◦Referral to Neurologists if any of these tests are considered.

MANAGEMENT

◦After completion of a comprehensive medical and developmental evaluation of the child with developmental problems and the establishment of developmental diagnoses and identification of associated medical conditions, a plan for active treatment and comprehensive management can be initiated by the physician.

◦Beginning with early identification of these problems, an affected child can receive educational and intervention services aimed at improvement of the child’s development through local early intervention and special education programs, as established in the United States through federal law under the Individuals with Disabilities Education Act.

◦Beginning as early as birth and continuing through age 3 years, any child with a known disability, significant delay, or condition with a high risk for disability (eg, Down syndrome) is entitled to early intervention services that provide developmental therapies intended to improve performance in one of the developmental spheres.

◦These can include traditional therapies, such as physical therapy, occupation therapy, and speech-language therapy, as well as broader services such as special instruction, counseling, and family training.

◦Many programs provide for parent training or home-based therapy to allow for generalization of skills learned.

◦For children 3 years and older and continuing into the school-age years, the child with disabilities is entitled to an individualized, free, and appropriate education along with related therapy services.

◦Specific medical treatments targeted towards a child’s related medical conditions should also begin with diagnosis.

◦For example, along with receiving physical therapy and other early intervention services, the child with cerebral palsy should be considered for medical treatment of tone abnormalities with oral agents, intramuscular botulinum toxin, or intrathecal baclofen.

◦The child with behavior disorders accompanying a communication or intellectual disability is a candidate for psychopharmacologic treatments, such as stimulants for ADHD and risperidone for aggression.

◦Finally, the child with a developmental disability should have a medical home as a child with special health care needs.

◦This allows the primary care provider a program of chronic condition management for regular health monitoring for chronological age and developmental monitoring in order to provide anticipatory guidance for developmental age.

◦Specialized, condition-related office visits, written care plans, explicit co-management with medical specialists, appropriate patient education, and an effective system for monitoring and tracking should be put in place

◦Both the primary care physician and the specialist can refer the family to community-based support services, such as respite care, parent-to-parent programs, and advocacy organizations.

◦Parent organizations such as Family Voices, and condition-specific organizations, such as Autism Speaks and The Ark, can provide further support, assistance, and information.

◦Some children will qualify for additional benefits such as Supplemental Security Income, public insurance, waiver programs, and state programs for children with special health care needs.

Resources◦ Nelson Textbook of Pediatrics, 19th Edition.

◦ http://www.med.umich.edu/yourchild/topics/devmile.htm

◦ http://www.med.umich.edu/yourchild/topics/devdel.htm

◦ http://www.healthychildren.org/English/ages-stages/baby/Pages/default.aspx

◦ http://www.babycenter.com/0_warning-signs-of-a-physical-developmental-delay_6720.bc

◦ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2791071/

◦ Center of Disease Control’s checklist of developmental milestones.

◦ The Royal Children's Hospital Melbourne; developmental delay: an information guide to parents.

◦ Developmental Delay – Causes and Investigation, Angharad V Walters

◦ http://learnpediatrics.com/body-systems/nervous-syste/basics-to-the-approach-of-developmental-delay/

◦ http://www.medmerits.com/index.php/article/developmental_delay_in_children_evaluation_and_management/P3

THANK YOUThe End