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RED FLAGGING DEVELOPMENTAL

DISABILITIES IN CHILDREN

Arlyn Marie M. Arabe, MD, FPNA, FCNSP

Child Neurologist

General ObjectivesGeneral ObjectivesGeneral ObjectivesGeneral Objectives

� To increase awareness and understanding on the common neurodevelopmental disabilities

� To increase level of knowledge on these disorders in order to facilitate early detection, diagnosis and management

Specific ObjectivesSpecific ObjectivesSpecific ObjectivesSpecific Objectives� To increase level of detection of the disabilities through the knowledge of the presenting clinical manifestations of the disorders

� To be guided with the algorithm in the detection and management of these disorders.

AUTISM SPECTRUM DISORDERS

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VignetteVignetteVignetteVignette� John is a 2.6 year old boy who was brought to the clinic because of concerns on his language and social skills

� He uttered mama meaningfully at 1 year old, but this seemed to no longer be heard when he was 2 years old.

� Currently, he has unintelligible utterances.

� John was not observed to point or use gestures to indicate his needs, instead, he would pull the caregiver’s hand towards the object of interest.

� Socially, they took notice of his fleeting eye contact and poor response to name calling.

� A hearing test was done which ruled out the possibility of a hearing impairment.

� While John had the opportunity to play with his cousins during weekends, he did not show interest in them and preferred solitary play.

� He would repetitiously make long lines out of various items in the house and would be irritated whenever this was disrupted.

DefinitionDefinitionDefinitionDefinition� Autism/Autism Spectrum Disorders/ Pervasive Developmental Disorders comprise a wide continuum of associated cognitive and behavioral disorders, which includes the core defining features of: � Impaired socialization

� Impaired verbal and non-verbal communication

� Restricted and repetitive patterns of interest and activities

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� In addition to being a spectrum disorder, autism has a wide variability in terms of the presence and intensity of symptoms

• DSM IV lists autism spectrum disorders under the category of Pervasive Developmental Disorder

• 5 subgroups:– Autistic Disorder (Kanner Syndrome)

– Asperger Disorder

– Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS)

– Childhood Disintegrative Disorder (Heller Syndrome)

– Rett Disorder

PrevalencePrevalencePrevalencePrevalence� ASD rates ranging from 1 in 303 to 1 in 94 children

� Average rate is 1 in 150

*Autism and Developmental Disorders Monitoring (ADDM) Network, 2007

Red flags for AutismRed flags for AutismRed flags for AutismRed flags for Autism• Communication Concerns

– Does not respond to name

– Appears deaf at times

– Does not follow directions

– Seems to hear sometimes

– Does not point or wave goodbye

– Has language delay

– Cannot tell what he wants

– Used to say few words, but now he doesn’t

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• Social Concerns– Doesn’t smile socially

– Seems to prefer to play alone

– Get things for himself

– Is very independent

– Has poor eye contact

– Is in his own world

– Tunes people out

– Is not interested in other children

• Behavioral Concerns– Throws intense or violent tantrums

– Hyperactive/ uncooperative/ oppositional

– Does not know how to play with toys

– Get stuck with things over and over

– Spends time lining up toys and putting things in order

– Oversensitive to certain textures or sounds

– Odd movement patterns

– Unusual attachment to toys, objects, schedules

PRACT ICE PARAMETER ALGORITHM FOR AUT ISMPRACT ICE PARAMETER ALGORITHM FOR AUT ISMPRACT ICE PARAMETER ALGORITHM FOR AUT ISMPRACT ICE PARAMETER ALGORITHM FOR AUT ISMModified Checklist for Autism in

Toddlers (M-CHAT)1 Does your child enjoy being swung, bounced on your knee? Yes No

2 Does your child take an interest in other children? Yes No

3 Does your child like climbing on things, such as up stairs? Yes No

4 Does your child enjoy playing peek-a-boo/ hide-and-seek? Yes No

5 Does your child ever pretend, for example, talk on the phone or take care of dolls, or pretend other things?

Yes No

6 Does you child ever use his/ her index finger to point, to ask for something?

Yes No

7 Does your child ever use his/ her index finger to point, indicate interest in something?

Yes No

8 Can your child play properly with small toys (e.g. Cars or bricks) without just mouthing, fiddling, or dropping them?

Yes No

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9 Does your child ever bring objects over to you (parent) to show you something?

Yes No

10 Does your child look you in the eye for more than a second or two? Yes No

11 Does your child ever seem oversensitive to noise? (e.g. Plugging ears) Yes No

12 Does your child smile in response to your face or your smile? Yes No

13 Does your child imitate you? (e.g.You make face-will your child imitate it?)

Yes No

14 Does your child respond to his/ her name when you call? Yes No

15 If you point at a toy across the room, does your child look at it? Yes No

16 Does your child walk? Yes No

17 Does your child look at things you are looking at? Yes No

18 Does your child make unusual finger movements near his/ her face? Yes No

19 Does your child try to attract your attention to his/ her own activity Yes No

20 Have you ever wondered if your child is deaf? Yes No

21 Does your child understand what people say? Yes No

22 Does your child sometimes stare at nothing or wander with no purpose? Yes No

23 Does your child look at your face to check your reaction when faced with something unfamiliar?

Yes No

� A child fails the M-CHAT checklist when:� 2 or more critical items are failed OR

� When any 3 items are failed

� Below are listed the failed responses for each item

� Critical items are those written in BOLD and all CAPITAL letters1. No 4. No 7. NO 10. No 13. NO 16. No 19. No 22. Yes

2. NO 5. No 8. No 11. Yes 14. NO 17. No 20. Yes 23. No

3. No 6. No 9. NO 12. No 15. NO 18. Yes 21. No

DiagnosisDiagnosisDiagnosisDiagnosis� There is no pathognomonic physical sign or laboratory test

� The diagnosis is made by determining the presence of characteristic developmental and behavioral criteria described by the Diagnostic and Statistical Manual IV-Text Revised (DSM IV-TR) using standardized tools

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Clinical ManifestationsClinical ManifestationsClinical ManifestationsClinical Manifestations� Core Clinical Features

� Social skill deficits Core-defining feature of autism� Lack of inherent desire to connect with others and share complementary emotional states

� Deficits in joint attention and sharing of interest

� Poor social and emotional reciprocity

� Difficulty in making and keeping friends

� Communication deficits

�Most common reason for referral

� At a younger age, children with ASD initially present as speech delay

� Lack of or severe deficits in speech without any effort to compensate with gestures

� Play skill deficits

� Lack of significant or significantly delayed pretend play, accompanied by persistent sensorimotor and/or ritualistic plays is very characteristic of ASD

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� Atypical behaviors� Repetitive, non-functional, atypical behaviors or stereotypes

� Eg. Hand flapping, finger movement, rocking, twirling

� Most behaviors are harmless by themselves

� They may prevent the child from accomplishing the tasks and learning new skills and interfere with inclusion in natural enviroments with typically developing children

� Distinctive but not specific to children with autism

� Additional Clinical Features That Are common But Are Not Core Features�Mental retardation

� Splinter and savant skills

� Abnormal sensory processing

�Motor abnormalities

� MENTAL RETARDATION� General prevalence of 75%

� A decreasing prevalence is noted because of better evaluation of children, improved professional training, more effective strategies/ tools for evaluating cognitive abilities

� SPLINTER AND SAVANT SKILLS� Abilities may be significantly delayed in many areas of development but advanced in others

� Eg. Exceptional memory, calculation, music or art abilities

� They serve little or no purpose in day-to-day life and do not improve ultimate prognosis

� For some, it may lead to a career, provide financial independence and even widespread recognition

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� ABNORMAL SENSORY PROCESSING�May demonstrate hyposensitivity or hypersensitivity

� MOTOR ABNORMALITIES�May demonstrate poor coordination and even frank delays

� Some have deficits in planning, executing and sequencing movements

�Others appear to have advanced motors skills

Evaluation and Management• A thorough evaluation process consists of:

– Comprehensive history– Thorough medical and neurological evaluation– Developmental and neuropsychological evaluation– Speech language and communication evaluation– Cognitive evaluation– Adaptive behavior evaluation– Sensorimotor and occupational therapy evaluation– Academic and behavioral assessments– Laboratory investigation, guided by the history, medical and neurological evaluation

Management

� Major Goals:�Minimize core features and associated deficits.

�Maximize functional independence and quality of life

�Alleviate family stress

• It involves the following– Appropriate educational placement and services

• Educational intervention

• Speech-language therapy

– Psychological and behavioral intervention

• Social skills instructions

• Parent training

–Medication when warranted to manage behavior and other associated co-morbid medical conditions

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� Children with ASD have the same health care needs as others

� They may have unique health care needs associated with underlying medical conditions:� Seizures

� Gastrointestinal problems

� Sleep disturbance

AUTISM A.L.A.R.MAUTISM A.L.A.R.MAUTISM A.L.A.R.MAUTISM A.L.A.R.M.

�Autism is prevalent

�Listen to parents

�Act early

�Refer

�Monitor

ATTENTION-DEFICIT/HYPERACTIVITY

DISORDER (ADHD)

VignetteVignetteVignetteVignette� Mark is a 6 year old Grade I student who came to your clinic for the first time for updating his immunization.

� While waiting for his turn, you observe him to be easily comfortable with the place, moving around, and opening your cabinets.

� He goes to the weighing scale and jumps repeatedly.

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• When it was his time to be checked, Mark’s mother answers questions on health related issues.

• She also airs her concerns with regards his behaviour which has been going on for the past 3 years.

• Mark is described to be an energetic boy, who does not seem to get tired of running around and playing in their house.

• During Sunday services, he has difficulty remaining in his seat and would even make approaches to the altar.

� While he can enjoy playing with other children, he tends to be aggressive when unable to get his way, has difficulty waiting for turn and is a sore loser.

� During preschool, he is described to be the “class supervisor” as he would wander around and look at what other kids are doing.

•Mark is said to talk to anybody and would disrupt adults conversing.

� His teachers need to remind him to concentrate on his work.

� He forgets pencils and notebooks

� At one point in time, he forgot to bring home his schoolbag.

� Now that he is in Grade I, Mark seems to be doing poorly in academic as he still has difficulty reading.

� A tutor has been employed to help him out.

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American Academy of PediatricsAmerican Academy of PediatricsAmerican Academy of PediatricsAmerican Academy of Pediatrics� AAP Guidelines:

Children 6-12 years of age with inattention, hyperactivity, impulsivity, academic underachievement or behaviour problems should be evaluated by their primary care clinician for ADHD.

DefinitionDefinitionDefinitionDefinition� A neurobehavioral syndrome

� Characterized by

�Developmentally inappropriate level of inattention

�Hyperactivity, and

� Impulsivity

� That occurs in various combinations across the home, school, or other social settings.

� It may have long-term adverse effects on academic performance, vocational success and socio-emotional development.

PrevalencePrevalencePrevalencePrevalence� It is the most common developmental disability in children

� Accounts for 30-40% of mental health referrals

� Affects 4-12% of primary school-age children

� Diagnosed 3-4 times more in boys than girls.

� Affects 2-8% of preschool children

� Affects 3-8% of adolescent children

EtiologyEtiologyEtiologyEtiology� Heterogenous behavioral disorder with the classic symptoms varying in severity with multiple possible etiologies

� No specific etiology has yet been identified

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EtiologyEtiologyEtiologyEtiology� It has very strong genetic and neurological underpinnings

�Genetics:� Family aggregates: 40-57% risk to offspring; 10-35% among biological relatives

� Twin studies: 80-90% concordance rate in monozygotic twins

� Adoption studies: no increased risk among adoptive children

�Molecular genetics: DRD4 most widely confirmed

EtiologyEtiologyEtiologyEtiology�Neurobiological factors� Neurotransmitter imbalance- dopamine and norepinephrine; only 10-25% of neurotransmitters are functioning

� Neuroanatomical differences- Differences in the prefrontal lobe, parietal lobe, basal ganglia and cerebellum

� Defects in neurocircuitry- frontal, subcortical, cerebellum

EtiologyEtiologyEtiologyEtiology� Environmental factors� home environment, parental management, peer influence, nature of school tasks

� Do not directly cause ADHD

�May affect the expression of the disorder

DiagnosisDiagnosisDiagnosisDiagnosis� There is no single or confirmatory test to diagnose

� Diagnosis remains clinical based on the specific criteria and clinical expression

� Detailed history gathered from multiple sources/ informants

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DiagnosisDiagnosisDiagnosisDiagnosis� Inclusive conditions:

� Age at onset: before 7 years old

� Duration: Persistence of symptoms for the past 6 months

� Pervasiveness: Occurs in 2 or more settings

� Impairment: inconsistent with developmental level and a clear evidence of significant impairment in social, academic, and occupational functioning

� Symptoms should not be the result of another mental disorder

DSMDSMDSMDSM----IV SYMPTOM CHECKLISTIV SYMPTOM CHECKLISTIV SYMPTOM CHECKLISTIV SYMPTOM CHECKLISTDSM-IV Defined Inattentive

SymptomsNever Sometimes Often Very Often

1) Makes careless mistakes

2) Has difficulty sustaining attention

3) Does not seem to listen

4) Does not follow through on tasks

5) Is not organized

6) Avoids sustained mental effort

7) Loses things

8) Is easily distracted

9) Is forgetful

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DSMDSMDSMDSM----IV SYMPTOM CHECKLISTIV SYMPTOM CHECKLISTIV SYMPTOM CHECKLISTIV SYMPTOM CHECKLISTDSM-IV Defined Hyperactive-

Impulsive SymptomsNever Sometimes Often Very Often

10) Fidgets or squirms

11) Inappropriately leaves seat

12) Inappropriately runs or climbs

13) Has difficulty playing quietly

14) Is “on the go”

15) Talks excessively

16) Blurts out answers

17) Has difficulty waiting for turn

18) Interrupts or intrudes on others

Common NonCommon NonCommon NonCommon Non----core Symptoms of core Symptoms of core Symptoms of core Symptoms of

ADHDADHDADHDADHD

� Social skills dysfunction

� Problems with self-esteem

� Sleep disturbance

� Motor incoordination

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Co-Morbid/ Co-existing ConditionsOppositional defiant disorder 40%

Language disorder 30-35%

Anxiety disorder 20-25%

Learning disability 15-25%

Mood disorder 15-20%

Conduct disorder 20%

Smoking 19%

Substance use/Abuse disorder 15%

Differential Diagnosis� Conditions that mimic ADHD

� A comprehensive history, thorough physical and neurological evaluation is warranted

Non-medical CausesAge –appropriate (differences in expectation)Developmental variationBoredomDifficult child

Neurological disordersSeizures, particularly absenceNeurodegenerative disorders

Medical conditionsChronic diseasesSensory impairments (visual/ hearing)Sleep disturbances/ disorders

Developmental disordersAutismMental retardationLearning disability

Genetic-Metabolic disordersFragile XFetal-alcohol syndromeThyroid problems

Psychiatric disordersMood disorderObsessive-compulsive disorderConduct disorder

Substance use disorder Family dysfunction

Treatment� It is important to understand that ADHD is a chronic illness for which there is no cure

� On-going management can minimize the extent of impairment

� An interdisciplinary approach to managing ADHD is important as it strongly impacts on various facets of a person’s life

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Treatment Approach� Recognize ADHD as a chronic condition that needs to be treated and monitored

� Access treatment with evidence-based benefit and delivered by trained and qualified professionals

� Complex cases should be treated by experts and specialists

� Provide patient and family knowledge about the disorder and how it impacts on the different area

A multi-modal management

approach is important:� Non-pharmacologic treatment

� Behavioral treatment/ psychosocial- includes all interventions in which counselling or behavior management is used� Behavioral management strategies

� Contingency management

� Cognitive-behavioral therapy

� Remedial education

� Advocacy

� Parental education and counselling

� Help demystify the condition and clarify misconceptions raised in media or prevalent in the community

� Help family come to grips with the diagnosis

� Change focus on helping the child improve function instead of always pointing out bad behaviors will improve satisfaction with the child’s treatment response

� Referrals, as needed to address individual and specific concerns/ deficits� Occupational therapy

� Speech-language therapy

� Reading assessment

� Neuropsychological evaluation

� Neurodevelopmental evaluation

� Neurological evaluation

� Child and adolescent psychiatry

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� Pharmacologic treatment:

Indications:� Fulfils diagnostic criteria for ADHD

� Symptoms static or worsening

� Significant social and/ or academic impairments

� Absence of contraindication

� Consent-from parent and patient

Medications Used� Stimulants: First line treatment

� Most extensively studied

� Dextroamphetamine, methylphenidate, mixed salts of amphetamine

� First choice of pharmacologic management because of its efficacy and safety

� Mechanism of action: act as dopamine and norepinephrine reuptake inhibitors thereby increasing norepinephrine and dopamine activity primarily in the caudate nucleus and prefrontal cortex

� Effects: Reduce the core symptoms of inattention, hyperactivity and impulsivity; improve academic productivity but do not improve cognitive ability or performance on standardized academic testing

Medications Used� Norepinephrine reuptake inhibitors

� Atomoxetine- first new stimulant medication developed specifically for treatment of ADHD

� Alpha adrenergic agents� Clonidine

� Primarily antihypertensive medication but affects the central nervous system broadly

Psychosocial Intervention� Includes all interventions in which couselling or behavior management is used� Behavior modification training

� Most frequently employed

� With the strongest scientific evidence for efficacy

� Performed by significant caretakers in the child’s environment

� Techniques most effective include contingency reinforcement

� Eg. Token economy, timeouts, response cost (earning-losing privileges)

� Social skills therapy

� Parent training

� School interventions

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PrognosisPrognosisPrognosisPrognosis� As much as 70-80% of children with ADHD continue to have difficulty through adolescence and adulthood

� Manifestations usually change through the lifespan

� In general, hyperactive core symptoms decrease over time while inattentive symptoms persist

PrognosisPrognosisPrognosisPrognosis� True outcome depends on:

� Symptom severity

� Presence or absence of coexisting conditions

� Social circumstances

� Intelligence

� Socioeconomic status

� Treatment history