Developmental Disabilities in Developmental Disabilities in Infancy & ChildhoodInfancy & Childhood

VIDA T. DARIA, MDNeurodevelopmental Pediatrician

DEVELOPMENTAL DISABILITIES Newest morbidity in childhood disordersNewest morbidity in childhood disorders

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

In the US:In the US:16.8% of children below 18 years old16.8% of children below 18 years old

DEVELOPMENTAL DISABILITIES A group of disorders that reflects an underlying A group of disorders that reflects an underlying

‘static’ nervous system disorder ‘static’ nervous system disorder

Chronic course with high likelihood of Chronic course with high likelihood of functional limitations functional limitations

Affecting their ability to learn, behave and Affecting their ability to learn, behave and socializesocialize

CLASSIFICATION OF DEVELOPMENTAL CLASSIFICATION OF DEVELOPMENTAL DISABILITIESDISABILITIES

I I Disorders primarily manifesting as a motor handicapDisorders primarily manifesting as a motor handicapCerebral palsyCerebral palsyNeuromuscular disordersNeuromuscular disorders

II II Disorders primarily manifesting as a cognitive Disorders primarily manifesting as a cognitive handicaphandicap

Mental RetardationMental Retardation

III III Disorders having globally normal cognition but Disorders having globally normal cognition but showing specific deficits in processingshowing specific deficits in processing A. Peripheral disorders of processingA. Peripheral disorders of processing

Hearing impairmentHearing impairmentVisual impairmentVisual impairment

B. Central processing disordersB. Central processing disorders

ESTIMATED PREVALENCE OF DEVELOPMENTAL ESTIMATED PREVALENCE OF DEVELOPMENTAL DISORDERS & OTHER CHRONIC CONDITIONSDISORDERS & OTHER CHRONIC CONDITIONS

Disorder Disorder Cases per 1000Cases per 1000 Attention deficit disorders 100.0Attention deficit disorders 100.0Speech & language disorders 70.0Speech & language disorders 70.0Learning disorders 75.0Learning disorders 75.0Asthma Asthma 29.3 29.3Mental retardation 20.0Mental retardation 20.0ArthritisArthritis 3.4 3.4 Cerebral palsy 2.0Cerebral palsy 2.0Severe hearing impairment 1.5Severe hearing impairment 1.5Diabetes mellitusDiabetes mellitus 1.0 1.0Autism 0.4Autism 0.4Visual impairment 0.4 Visual impairment 0.4

Gortmaker, Walker, et al 1990

Recognition of Developmental Recognition of Developmental DisabilitiesDisabilities

Early identification attributed to both Early identification attributed to both physicians and parents attentive to physicians and parents attentive to developmental progress of childdevelopmental progress of child

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

DISORDERS OF DISORDERS OF LANGUAGE DEVELOPMENTLANGUAGE DEVELOPMENT

DISORDERS OF DISORDERS OF LANGUAGE DEVELOPMENTLANGUAGE DEVELOPMENT

Most common reason for referralMost common reason for referral ““child does not talk”child does not talk” May be the most reliable indicator of May be the most reliable indicator of

developmental disorders of all kindsdevelopmental disorders of all kinds

ABSOLUTE INDICATIONS FOR ABSOLUTE INDICATIONS FOR IMMEDIATE FURTHER EVALUATIONIMMEDIATE FURTHER EVALUATION

no babbling by 12 monthsno babbling by 12 monthsno gestures by 12 monthsno gestures by 12 monthsno single words by 16 monthsno single words by 16 monthsno 2 word phrases by 24 monthsno 2 word phrases by 24 months

ANYANY Loss of Loss of ANYANY Language or Social Language or Social Skills at Skills at ANY ANY AgeAge

CAUSES OF LANGUAGE DELAYCAUSES OF LANGUAGE DELAYIN THE PRESCHOOL CHILDIN THE PRESCHOOL CHILD

11. . Hearing impairmentHearing impairment2. Mental retardation2. Mental retardation3. Autism3. Autism4. Developmental Language Disorders4. Developmental Language Disorders5. Environmental Deprivation5. Environmental Deprivation6. Cerebral Palsy6. Cerebral Palsy7. Elective mutism7. Elective mutism

AUTISM SPECTRUM AUTISM SPECTRUM DISORDERSDISORDERS

Group of related brain-based disordersGroup of related brain-based disorders that affect a child’s behavior, social, andthat affect a child’s behavior, social, and communication skillscommunication skills

Manifests from very early childhood and Manifests from very early childhood and lasts throughout the person’s lifelasts throughout the person’s life

TRIAD OF IMPAIRMENTSTRIAD OF IMPAIRMENTS

Impairment in Social InteractionDo not relate to others or relate in deviant ways

Impairment inCommunication

Delay or total lack ofspoken language

Idiosyncratic language

Restricted & repetitivepatterns of interest,behavior & activitiesStereotypic behaviors,Adherence to rituals

Preoccupation with objects

Presence of only one impairmentdoes not diagnose autism

AUTISM SPECTRUM DISORDERSAUTISM SPECTRUM DISORDERSAutistic disorderAutistic disorder A child meets A child meets

all the criteria all the criteria listed in DSM listed in DSM IVIV

Problems with Problems with language language skillsskills

Problems Problems relating to relating to others others sociallysocially

Unusual or Unusual or repetitive repetitive behaviorsbehaviors

Asperger syndromeAsperger syndrome Early speech Early speech

development development relatively relatively normalnormal

Speak in an Speak in an odd wayodd way

Make little eye Make little eye contact while contact while talking; trouble talking; trouble w/ back-&-forth w/ back-&-forth conversationconversation

Obsess over 1 Obsess over 1 or 2 topicsor 2 topics

PDD-NOSPDD-NOS Atypical Atypical

autismautism Show some Show some

signs of signs of autism or autism or other PDD but other PDD but don’t meet the don’t meet the criteria to be criteria to be diagnosed diagnosed with one with one specific specific disorderdisorder

AUTISM SPECTRUM DISORDERSAUTISM SPECTRUM DISORDERS

How common are autism spectrum How common are autism spectrum disorders?disorders?

Reported number has increased since the early Reported number has increased since the early 1990’s1990’s

2010 – 1:1102010 – 1:110 May be due to many factorsMay be due to many factors

• increased awarenessincreased awareness• more screening tools and servicesmore screening tools and services• changes in how ASD has been defined and diagnosedchanges in how ASD has been defined and diagnosed• in the past, only those with severe autism were in the past, only those with severe autism were

diagnoseddiagnosed

What are the symptoms of ASD?What are the symptoms of ASD?• Social differencesSocial differences

• doesn’t snuggle when doesn’t snuggle when picked up, but arches picked up, but arches back back

• no eye contact or very no eye contact or very little eye contactlittle eye contact

• no response to parent’s no response to parent’s smile or other facial smile or other facial

expressionsexpressions

• no joint attentionno joint attention

What are the symptoms of ASD?What are the symptoms of ASD?

• Social differencesSocial differences• no appropriate facial no appropriate facial

expressionsexpressions

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

• no concern for othersno concern for others

• unable to make unable to make friendsfriends

What are the symptoms of ASD?What are the symptoms of ASD?• Communication Communication

differencesdifferences• no single words by 15 months; no single words by 15 months;

2-word phrases by 24 months 2-word phrases by 24 months • echolaliaecholalia• no response to name being no response to name being

called, respond to other soundscalled, respond to other sounds• reversal of pronounsreversal of pronouns• doesn’t seem to want to doesn’t seem to want to

communicatecommunicate• doesn’t start or can’t continue a doesn’t start or can’t continue a

conversationconversation

What are the symptoms of ASD?What are the symptoms of ASD?Communication differencesCommunication differences

No imaginary playNo imaginary play good rote memory for numbers, songs, good rote memory for numbers, songs,

TV jingles, or a specific topicTV jingles, or a specific topic loses language milestones between the loses language milestones between the

ages of 15 to 24 months in a few ages of 15 to 24 months in a few childrenchildren

What are the symptoms of ASD?What are the symptoms of ASD?

rocks, spins, sways, twirls rocks, spins, sways, twirls fingers, or flaps handsfingers, or flaps hands

plays with parts of toys plays with parts of toys likes routines, order, and likes routines, order, and

ritualsrituals obsessed with a few obsessed with a few

activitiesactivities

splinter skillssplinter skills doesn’t cry if in pain; seem to doesn’t cry if in pain; seem to have no fearhave no fear very sensitive or not sensitive very sensitive or not sensitive at all to smell, sounds, light, at all to smell, sounds, light, textures, and touchtextures, and touch unusual use of vision; gaze-unusual use of vision; gaze- looks at objects from unusual looks at objects from unusual anglesangles may have unusual or intense may have unusual or intense but narrow interestsbut narrow interests

Behavioral differencesBehavioral differences

What causes autism spectrum What causes autism spectrum disorders?disorders?

• Exact cause is not knownExact cause is not known• In the past, ‘poor, non-nurturing’ parentingIn the past, ‘poor, non-nurturing’ parenting• Genetics play a major roleGenetics play a major role• Many chromosomes and gene abnormalities Many chromosomes and gene abnormalities

have been identified, none of these are present have been identified, none of these are present in all children with ASDin all children with ASD

• If a family has a child diagnosed with ASD, If a family has a child diagnosed with ASD, chances that siblings may have some form of chances that siblings may have some form of ASD are 10 times higher than the general ASD are 10 times higher than the general population population

What causes autism spectrum What causes autism spectrum disorders?disorders?

• Environmental factors may play a secondary roleEnvironmental factors may play a secondary role

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

• No proof to support a link between thimerosal No proof to support a link between thimerosal (mercury containing preservative) and ASD(mercury containing preservative) and ASD

What is known about brain development What is known about brain development in autism spectrum disorders?in autism spectrum disorders?

• The exact abnormalities in brain function that The exact abnormalities in brain function that cause ASD are not knowncause ASD are not known

• Research has shown thatResearch has shown that• Tendency for brains to grow faster than usual Tendency for brains to grow faster than usual

in early childhood and then to grow more in early childhood and then to grow more slowlyslowly

• Microscopic abnormalities in brain areas such Microscopic abnormalities in brain areas such as the cerebellum, limbic system, and as the cerebellum, limbic system, and cerebral cortexcerebral cortex

What is known about brain development What is known about brain development in autism spectrum disorders?in autism spectrum disorders?

• Differences or abnormalities in some brain Differences or abnormalities in some brain chemicals in ASDchemicals in ASD

• Some differences in function of certain parts of Some differences in function of certain parts of the brain in autismthe brain in autism

ASSOCIATED DISORDERS OR ASSOCIATED DISORDERS OR SYMPTOMSSYMPTOMS

Health ProblemsHealth Problems Seizures Seizures

seen in ¼ of children with ASD seen in ¼ of children with ASD Jerky movements of the arms or legs, loss of Jerky movements of the arms or legs, loss of

consciousness, or brief staring spellsconsciousness, or brief staring spells

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

TicsTics Seen in 6% with ASDSeen in 6% with ASD Involuntary brief motor movements or soundsInvoluntary brief motor movements or sounds

ASSOCIATED DISORDERS OR ASSOCIATED DISORDERS OR SYMPTOMSSYMPTOMS

Behavioral ChallengesBehavioral Challenges Attention and /or hyperactivity difficultiesAttention and /or hyperactivity difficulties Aggression and agitationAggression and agitation Obsessiveness or repetition of behaviors, Obsessiveness or repetition of behaviors,

problems w/ transitionsproblems w/ transitions Self-injurySelf-injury Self-stimulationSelf-stimulation Sleep disordersSleep disorders

ASSOCIATED DISORDERS OR ASSOCIATED DISORDERS OR SYMPTOMSSYMPTOMS

Emotional DisordersEmotional Disorders Anxiety disordersAnxiety disorders

General feelings of nervousness to intense fears and General feelings of nervousness to intense fears and panic attackspanic attacks

Rapid heart rate and hyperventilationRapid heart rate and hyperventilation

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

problemsproblems Hyperactive, irritableHyperactive, irritable

ASSOCIATED DISORDERS OR ASSOCIATED DISORDERS OR SYMPTOMSSYMPTOMS

Developmental disordersDevelopmental disorders Mental retardation or cognitive deficitsMental retardation or cognitive deficits

Occur in up to 2/3 of childrenOccur in up to 2/3 of children Child shows global delays (esp in self help and Child shows global delays (esp in self help and

problem solving skills) as well as delays in language problem solving skills) as well as delays in language and social skillsand social skills

Verbal apraxiaVerbal apraxia Affects muscles used in speechAffects muscles used in speech Make trouble making even simple soundsMake trouble making even simple sounds Others may just lack the oral motor skills to speak Others may just lack the oral motor skills to speak

easilyeasily

TREATMENT STRATEGIESTREATMENT STRATEGIES

Developmental and Developmental and behavioral behavioral interventionsinterventions

Mainstay of Mainstay of supportsupport

Developmentally Developmentally based int focus based int focus on basic building on basic building blocksblocks

Behavior int Behavior int focus on focus on changing specific changing specific behaviors & sxbehaviors & sx

Communication Communication interventionsinterventions

Wide range of Wide range of severityseverity

Therapy aimed Therapy aimed at using any at using any effective means effective means of providing of providing comm, at the comm, at the same time same time working to working to increase all increase all levels of levels of communication communication

Social skill Social skill interventionsinterventions

Stress the role Stress the role of the family in of the family in teaching the teaching the process of joint process of joint attention and attention and social social communicationcommunication

Opportunities to Opportunities to play & interact play & interact with typically with typically developing developing peerspeers

American Academy of Pediatrics

TREATMENT STRATEGIESTREATMENT STRATEGIESSensory motor Sensory motor

interventionsinterventions Unusual sensory Unusual sensory

aversionsaversions SI procedures SI procedures

such as deep such as deep pressure, pressure, brushing, brushing, wearing a wearing a weighted vest, weighted vest, and swingingand swinging

MedicinesMedicines Have not shown Have not shown

to consistently to consistently improve the core improve the core deficits of ASDdeficits of ASD

No medicines No medicines approved by the approved by the FDAFDA

Interfere with Interfere with learning, safety, learning, safety, quality of life & quality of life & not responding not responding to behavioral to behavioral treatments treatments

TREATMENT STRATEGIESTREATMENT STRATEGIESComplementary & Alternative Treatments (CAM)Complementary & Alternative Treatments (CAM)BiologicalBiological Nutritional supplementsNutritional supplements

Dimethylglycine, vitamin B6 with magnesium, vitamin C, and Dimethylglycine, vitamin B6 with magnesium, vitamin C, and vitamin Avitamin A

No scientific studies to look for toxic effects from long term No scientific studies to look for toxic effects from long term vitamin supplement use in young childrenvitamin supplement use in young children

Diet changesDiet changes Gluten and/or casein free dietGluten and/or casein free diet Scientific studies being done Scientific studies being done Adequate calcium, vit D, and protein must be providedAdequate calcium, vit D, and protein must be provided

TREATMENT STRATEGIESTREATMENT STRATEGIES

Complementary & Alternative Treatments (CAM)Complementary & Alternative Treatments (CAM)NonbiologicalNonbiological Auditory Integration trainingAuditory Integration training

Conditioned to tolerate certain sounds by listening to filtered Conditioned to tolerate certain sounds by listening to filtered music in a sound booth 2x a day over a period of timemusic in a sound booth 2x a day over a period of time

No scientific proofNo scientific proof Facilitated communicationFacilitated communication

Enlist a second person to help a child w/ ASD point to letters Enlist a second person to help a child w/ ASD point to letters or words on a communication board or type by holding the or words on a communication board or type by holding the child’s hand or supporting the armchild’s hand or supporting the arm

DISORDERS OF DISORDERS OF COGNITIVE DEVELOPMENTCOGNITIVE DEVELOPMENT

Mental RetardationLearning Disabilities

The cognitive development of a child who The cognitive development of a child who “fails” academically or has to repeat a “fails” academically or has to repeat a

grade should be evaluated.grade should be evaluated.

DSM-PC - Child and Adolescent VersionDSM-PC - Child and Adolescent Version 19961996

Poor School Performance/School Failure

INTRINSIC Child related causes

a. Learning Disabilitiesb. ADHDc. Mental Retardationd. Sensory Impairmente. Chronic Illness

EXTRINSICEnvironment related

a. Homeb. School Settingc. Peer Dysfunction

MISCELLANEOUSa. Lack of Motivationb. Laziness/Fatigue

MENTAL RETARDATIONMENTAL RETARDATION

Significant sub-average Significant sub-average intellectualintellectual functioningfunctioning that is accompanied by that is accompanied by significant limitations in significant limitations in adaptiveadaptive functioningfunctioning in at least two skill areas, with in at least two skill areas, with onset before age onset before age 18 years18 years..

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

ESSENTIAL FEATURES of MRESSENTIAL FEATURES of MR

1. Sub-average intellectual functioning1. Sub-average intellectual functioning- IQ score of - IQ score of 7070 or belowor below on an individually on an individually administered testadministered test- In infants or younger children, a - In infants or younger children, a clinical clinical judgmentjudgment of a significantly sub-average of a significantly sub-average intellectual intellectual functioningfunctioning

2. Age of Onset2. Age of Onset - Impairment resulting from an injury, disease - Impairment resulting from an injury, disease or abnormality existed or abnormality existed beforebefore 18 years18 years

DSM IV-TR

3. 3. Concurrent deficits or impairment in Concurrent deficits or impairment in present adaptive functioningpresent adaptive functioning

- - person’s effectiveness in meeting the standards person’s effectiveness in meeting the standards expected for his age by his cultural groupexpected for his age by his cultural group - how well can an individual function and maintain - how well can an individual function and maintain himself independently and how well they meet the himself independently and how well they meet the personal and social demands imposed on them by personal and social demands imposed on them by

their culture.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 IMPAIRMENTAREAS OF IMPAIRMENTIN MENTAL RETARDATIONIN MENTAL RETARDATION

LearningCapacity to learnnew information

MaturationRate of development

of self-help skills

Social AdjustmentAbility to adapt within the community

MR CLASSIFICATION MR CLASSIFICATION (DSM IV-TR)(DSM IV-TR)

Mild MRMild MR 50-55 to 7050-55 to 70

Moderate MRModerate MR 35-40 to 50-5535-40 to 50-55

Severe MRSevere MR 20-25 to 35-4020-25 to 35-40

Profound MRProfound MR Below 20-25Below 20-25

Unspecified MRUnspecified MR Severity undeterminedSeverity undetermined

MANAGEMENTMANAGEMENT

Treatment approachesTreatment approaches EducationEducation Social and recreational activitiesSocial and recreational activities Behavior and emotional issuesBehavior and emotional issues Associated disabilitiesAssociated disabilities

LEARNING DISABILITIES

LEARNING DISABILITIESLEARNING DISABILITIES

• Heterogeneous group of disordersHeterogeneous group of disorders manifested by significant difficulties in the manifested by significant difficulties in the

acquisition and use ofacquisition and use of listening, speaking, listening, speaking, reading, writing, reasoning or math abilitiesreading, writing, reasoning or math abilities..

• Intrinsic to the individual Intrinsic to the individual • Presumed to be due to aPresumed to be due to a CNS dysfunctionCNS dysfunction• May May occur concomitantlyoccur concomitantly with other with other

handicapping conditionshandicapping conditions

Performance IQVerbal IQ

ReadingMathematicsSpellingWritten expression

Achievement/School performance

Intellectual/Cognitive Potential

DYSLEXIADYSLEXIA

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

• Describes difficulty with language Describes difficulty with language processing and its impact on reading, processing and its impact on reading, writing and spellingwriting and spelling

RED FLAGS : LEARNING DISABILITYRED FLAGS : LEARNING DISABILITYREADING - DYLEXIAREADING - DYLEXIA Slow in learning the connection of letters and soundsSlow in learning the connection of letters and sounds Makes consistent reading errors :Makes consistent reading errors : letter reversals - b-d, p-q inversions – m-w, p-d letter reversals - b-d, p-q inversions – m-w, p-d transpositions - felt-left number reversals transpositions - felt-left number reversals word reversals - spaghetti –stapeggiword reversals - spaghetti –stapeggi Repeats, omits or adds wordsRepeats, omits or adds words Does not like reading Does not like reading avoids reading aloud avoids reading aloud Problems in understanding what is read/ comprehensionProblems in understanding what is read/ comprehension

SPELLINGSPELLING Uses incorrect lettersUses incorrect letters Difficulty associating correct sound to lettersDifficulty associating correct sound to letters Reverses letter or entire wordReverses letter or entire word

b-d, p-q , was –saw, solid-soiledb-d, p-q , was –saw, solid-soiled

RED FLAGS : LEARNING DISABILITYRED FLAGS : LEARNING DISABILITY

WRITING - DSYGRAPHIAWRITING - DSYGRAPHIA Cannot write on lineCannot write on line Poor hand writingPoor hand writing Errors made in copying written materialErrors made in copying written material Mixes upper & lower case letters with wordMixes upper & lower case letters with word Discrepancy between written and oral workDiscrepancy between written and oral work

MATHEMATICS - DYSCALCULIAMATHEMATICS - DYSCALCULIA Difficulty associating number name & written symbolDifficulty associating number name & written symbol Transposes number sequencesTransposes number sequences - - 41-14, 28-8241-14, 28-82 Confuses columns and spacingConfuses columns and spacing May be able to calculate in their head but not on paper May be able to calculate in their head but not on paper

ATTENTION-DEFICIT/ATTENTION-DEFICIT/HYPERACTIVITY DISORDERHYPERACTIVITY DISORDER

• Neurobehavioral syndrome that begins in early Neurobehavioral syndrome that begins in early childhood childhood

• Diagnosed in individuals who display Diagnosed in individuals who display developmentally inappropriate levels of developmentally inappropriate levels of attention, hyperactivity, impulsivity, with attention, hyperactivity, impulsivity, with impairments in adaptive functioning at home, impairments in adaptive functioning at home, school, and/or in social situationsschool, and/or in social situations

RED FLAGS FOR ADHDRED FLAGS FOR ADHD

1. Fails to give attention to details or makes careless 1. Fails to give attention to details or makes careless mistakesmistakes

2. Has difficulty sustaining attention2. Has difficulty sustaining attention3. Does not seem to listen3. Does not seem to listen4. Does not follow through on instructions and fails to finish 4. Does not follow through on instructions and fails to finish

taskstasks5. Avoids or dislikes tasks that require sustained mental 5. Avoids or dislikes tasks that require sustained mental

efforteffort6. Has difficulty organizing tasks and activities6. Has difficulty organizing tasks and activities7. Often loses things7. Often loses things8. Is often forgetful8. Is often forgetful9. Is easily distracted9. Is easily distracted

INATTENTION

HYPERACTIVITYCore Problem : Impaired ability to inhibit

1. Fidgets with hands or feet, squirms in seat2. Leaves seat in class or in other situations where

remaining seated is expected3. Runs about or climbs excessively in situations in

which it is inappropriate4. Difficulty paying attention or engaging in leisure

activities quietly5. Talks excessively6. “On the go” or acts as if “driven by a motor”

IMPULSIVITYCore Problem : Impaired ability to inhibit

1.Blurts out answers before questions are completed2. Difficulty awaiting turn3. Interrupts or intrudes on others

ATTENTION-DEFICIT/ATTENTION-DEFICIT/HYPERACTIVITY DISORDERHYPERACTIVITY DISORDER

Some hyperactive-impulsive or inattentive Some hyperactive-impulsive or inattentive symptoms before 7 yearssymptoms before 7 years

Some impairment from the symptoms is present Some impairment from the symptoms is present in 2 or more settingsin 2 or more settings

Causes significant distress in learning and Causes significant distress in learning and adaptive functioning adaptive functioning

Symptoms do not occur exclusively during the Symptoms do not occur exclusively during the course of a PDD, schizophrenia, or other mental course of a PDD, schizophrenia, or other mental disordersdisorders

These behaviors are moreThese behaviors are more the RULEthe RULE

rather thanrather than the EXCEPTIONthe EXCEPTION

Attention-Deficit/Hyperactivity Disorder, predominantly hyperactive

Attention-Deficit/Hyperactivity Disorder, predominantly inattentive

Attention-Deficit/Hyperactivity Disorder, combined type

ADHD SUBTYPES

CONDITIONS THAT MIMIC ADHDCONDITIONS THAT MIMIC ADHDNON-MEDICAL CAUSESNON-MEDICAL CAUSES Age appropriateAge appropriate Developmental variationDevelopmental variation BoredomBoredom

NEUROLOGICAL DISORDERSNEUROLOGICAL DISORDERS Seizure disordersSeizure disorders Neurodegenerative diseasesNeurodegenerative diseases

MEDICAL CONDITIONSChronic diseaseSensory impairmentsSleep disorders

GENETIC-METABOLICSyndrome-Fragile x, FASThyroid disease

SUBSTANCE ABUSE DIS

NEURODEV PROBLEMSAutismMental retardationLearning difficulties

PSYCH DISORDERSMood disordersObsessive compulsive Conduct disorders

FAMILY DISCORD

MANAGEMENTMANAGEMENT

Multimodal interventionsMultimodal interventions Counseling therapy (individual, family)Counseling therapy (individual, family) General classroom modificationsGeneral classroom modifications Learning disability intervention Learning disability intervention MedicationMedication Development of organizational and study Development of organizational and study

skills skills

DISORDERS OF MOTOR DISORDERS OF MOTOR DEVELOPMENTDEVELOPMENT

CEREBRAL PALSYCEREBRAL PALSY One of the three most common life long One of the three most common life long

developmental disabilitiesdevelopmental disabilities

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

Primary lesion, anomaly or injury is Primary lesion, anomaly or injury is staticstatic, the , the clinical pattern of presentation may change with clinical pattern of presentation may change with time due to growth and developmental plasticity time due to growth and developmental plasticity and maturation of the central nervous systemand maturation of the central nervous system

ETIOLOGY & RISK FACTORSETIOLOGY & RISK FACTORSPrenatal risk factors Prenatal risk factors chromosomal & chromosomal &

genetic causesgenetic causes isolated brain isolated brain

malformations malformations birth defect birth defect

syndromessyndromes neuronal migration neuronal migration

disordersdisorders congenital congenital

infectionsinfections intrauterine intrauterine

ischemic eventsischemic events

Perinatal risk factors:Perinatal risk factors: premature birthpremature birth perinatal asphyxiaperinatal asphyxia perinatal infection perinatal infection metabolic metabolic

disturbancedisturbance

Postnatal risk Postnatal risk factorsfactors

toxictoxic infectious infectious meningitis meningitis encephalitisencephalitis traumatrauma acute brain injuryacute brain injury

TYPES OF CEREBRAL PALSY

DOWN SYNDROMEDOWN SYNDROME

DOWN SYNDROMEDOWN SYNDROME One of the most frequently occurring One of the most frequently occurring

neurodevelopmental genetic disorders in childrenneurodevelopmental genetic disorders in children

Most common genetic cause of mental retardationMost common genetic cause of mental retardation

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

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

DOWN SYNDROMEDOWN SYNDROME

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

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

DIAGNOSISDIAGNOSIS Diagnosis can generally be made Diagnosis can generally be made

shortly after birthshortly after birth

Flat facial profileFlat facial profile90%90%Poor moro reflexPoor moro reflex 85%85%HypotoniaHypotonia 80%80%Hyperflexibility of jointsHyperflexibility of joints 80%80%Excess skin on back of neckExcess skin on back of neck 80%80%Slanted palpebral fissuresSlanted palpebral fissures 80%80%Dysplasia of pelvisDysplasia of pelvis 70%70%Anomalous auriclesAnomalous auricles 60%60%Dysplasia of midphalanx Dysplasia of midphalanx 60%60%

of 5of 5thth finger fingerSimian creaseSimian crease 45%45%

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

GENETICSGENETICSDOWN SYNDROMEDOWN SYNDROME

TRISOMY 21 TRANSLOCATION MOSAICISM

ASSOCIATED MEDICAL ASSOCIATED MEDICAL CONDITIONSCONDITIONS

Increased risk of Increased risk of abnormalities in almost abnormalities in almost every organ systemevery organ system

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

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 ASSOCIATED MEDICAL CONDITIONSCONDITIONS

Associated Medical ConditionsAssociated Medical Conditions % affected% affected

1. Congenital Heart Defect1. Congenital Heart Defect2. Hearing loss2. Hearing loss3. Ophthalmologic disorders3. Ophthalmologic disorders4. Endocrine abnormalities4. Endocrine abnormalities5. Orthopedic abnormaliites5. Orthopedic abnormaliites6. Dental problems6. Dental problems7. Epilepsy7. Epilepsy8. Gastrointestinal malformations8. Gastrointestinal malformations9. Celiac Disease9. Celiac Disease10. Leukemia10. Leukemia

66%66%66%66%60%60%

50 – 90%50 – 90%16%16%

60 – 100%60 – 100%6%6%5%5%5%5%

0.01%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 & DEVELOPMENTGROWTH & DEVELOPMENT

Developmental CharacteristicsDevelopmental Characteristics1. 1. Delayed and atypical speech & language Delayed and atypical speech & language

development, with expressive language being more development, with expressive language being more delayed than receptive languagedelayed than receptive language

2. Delayed cognitive development, usually within the 2. Delayed cognitive development, usually within the mild to moderate range of mental retardationmild to moderate range of mental retardation

3. Delayed development of social skills3. Delayed development of social skills4. Delayed motor skills 4. Delayed motor skills 5. Possible co-existence of other developmental 5. Possible co-existence of other developmental

disorders, mental health or behavioral conditionsdisorders, mental health or behavioral conditions

NEURODEVELOPMENTAL DISORDERSNEURODEVELOPMENTAL DISORDERSEpilepsy Epilepsy Age of onset of seizures: occur most commonly in Age of onset of seizures: occur most commonly in

individuals < than 3 years and > than 13individuals < than 3 years and > than 13

Autism Autism Although autism is a relatively rare occurrence in people Although autism is a relatively rare occurrence in people

with DS, there are an increasing number of reports of the with DS, there are an increasing number of reports of the 2 conditions co-existing2 conditions co-existing

ADHDADHD Occurs in individuals with DS in the same frequency as it Occurs in individuals with DS in the same frequency as it

does in the general population of individuals with MRdoes in the general population of individuals with MR

Roizen N. Down Syndrome. In: Batshaw M, ed. Children with Disabilities. 5Roizen N. Down Syndrome. In: Batshaw M, ed. Children with Disabilities. 5 thth edition. Baltimore, Maryland: Paul H. Brookes Publishing Co., Inc, 2002: 307-edition. Baltimore, Maryland: Paul H. Brookes Publishing Co., Inc, 2002: 307-318318

INTERVENTIONINTERVENTION Once diagnosed, initiate assessments to Once diagnosed, initiate assessments to

determine appropriate interventions to address determine appropriate interventions to address all developmental domainsall developmental domains

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

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

To enable the child reachHis optimal developmental potential

Early recognition and early intervention…

THANK YOU

DEVELOPMENTAL CONCERNSDEVELOPMENTAL CONCERNS

Physiologic stabilityDysmorphismsNeurologic syndromes

High risk neonateCong malformationCNS dysfunction

Newborn

Infancy Gross motor abilities Disorders ofMotor development

Preschool Language abilities Disorders oflanguage devt.

School Age School performanceBehaviors

Disorders ofCognitive devt.Behavior problems