Screening Tool for Developmental Disorders in Children

Review Article

The 4th edition of Health For All Children by DavidMB Hall and David Elliman amply discusses how illusiverobust screening programmes of Health SurveillanceChecks, spread around the UK, proved to be.

This Bible of its users in the academic and professionaldiscipline of Community Paediatrics also acknowledgeshow important it is to address these issues and have comeup with suggestions and recommendations in each groupof cases.

SCREENING TOOL FOR DEVELOPMENTAL DISORDERS IN CHILDREN

Anjan BhattacharyaConsultant Developmental Pediatrician, Apollo Geleneagles Hospitals, 58 Canal Circular Road, Kolkata 700 054, India.

Search for the truth is the noblest occupation of man;its publication is a duty.—Madame de Stae¨l (1766-1817)

Developmental problems are a diverse group of conditions that affect and limit children and their life-chances.A ready reference for a Paediatrician would be the first six chapters of the latest edition (18th) of the NelsonTextbook of Pediatrics (The Field of Pediatrics, Growth & Development, Psychological Disorders, SocialIssues, Children with Special Health Needs and Nutrition and Human Genetics and Metabolic Diseases).

Key words: Developmental disorders, Screening tools, Checklist for Autism in Toddlers (CHAT).

It is therefore, important to acknowledge that theproblem of early identification of developmental disordersremained a vexing puzzle to the world to this day.

However, human spirit has never allowed it to throw inthe towel and quit! Various meaningful efforts were madeto develop effective screening tools to meet this needfairly and squarely.

M-CHAT was developed for screening Autism intoddlers (infancy to nursery going age) as it met variouscriteria for an effective screening tool at a relatively earlyage.

The latest edition (18th) of the Nelson Textbook ofPediatrics has included another validated screening toolnamed Pediatric Symptom Checklist (PSC) to alertpediatricians and other Healthcare professionals to aidearly diagnosis.

BACKGROUND

Epidemiology

The national framework of Child Health Surveillancerecommends the screening by health professionals of allUK children at birth; at age 6 weeks; between ages 6 and 9months, 18 and 24 months, and 3¼ and 3½ years. In thestudy population, all the neonatal and 6-week screeningswere performed by paediatricians or general practitionersand the 7-month screening by health visitors, who arenurse specialists experienced in working with childrenand families. Health visitors or physicians performed the18- to 24- month and 3¼ to 3½ years’ screening. Screeningwas conducted in accordance with the guidelines of the

Recently, Cochran and Holland described thecharacteristics of the ideal screening test as follows:

1. Simple, quick and easy to interpret; capable ofbeing performed by paramedics or otherpersonnel

2. Acceptable to the public, since participation inscreening programme is voluntary

3. Accurate i.e. gives a true measurement of theattribute under investigation

4. Repeatable: this involves the components ofobserver variability (both within and betweentests), subject variability and test variability

5. Sensitive: this is the ability of the test to give apositive finding when the individual screened hasthe disease or the abnormality under investigation

6. Specific: this is the ability of the test to give anegative finding when the individual does nothave the disease or the abnormality underinvestigation.

Apollo Medicine, Vol. 8, No. 1, March 2011 28

Review Article

29 Apollo Medicine, Vol. 8, No. 1, March 2011

“Health for All Children” report [1], which emphasizedcontinuity of care, making observations, checking history,eliciting parental concerns, offering health advice andguidance, and moving away from prescriptive tests. Theprimary care worker may also have had the opportunity tolisten to and discuss any concerns about the child’sprogress during the immunization visits at 2, 3, 4, and 13months. Besides health visitors, speech and languagetherapists, pediatricians, general practitioners, and otherprofessionals contributed to the referral process,especially for children older than 3 years.

In an epidemiological study for PDD (BritishwinStudy), the study was coordinated through the childdevelopment centers that processed all the referrals ofpreschool children. Consistent with a major role of geneticfactors in PDD [2,3] identified medical abnormalitieswere found in less than 10% of the sample. Moreover, theabnormalities reported in this sample might not becausally implicated in the development of PDD and mighthave occurred simply as random findings in a populationsubmitted to intensive medical work-up. Nevertheless, therate of 10% for medical abnormalities of potentialetiological significance is consistent with prior findingsderiving from both clinical [4,5] and epidemiologicalsurveys [6].

Dyslexia, a specific reading difficulty, which interfereswith learning and education, seems to run at an averageprevalence of ~10% of school going children [7].

The precise prevalence of Cerebral Palsy (CP) in theUnited States is uncertain because consistent informationis lacking on follow-up of an entire population, especiallyfor term and late preterm infants, which comprise themajority of births. A population-based surveillance studyusing data from three regions in the United Statesestimated a prevalence of 3.6 cases per 1000 children ateight years of age, but the study did not distinguishbetween children with and without a history ofprematurity [8]. No data are available on CP prevalence inNorth America for term infants born since the mid-1980s[9]. In one report that used standard definitions andincluded 6000 children with CP from 13 geographicallydefined populations in Europe born from 1980 to 1990,the overall rate was 2.08/1000 live births [10].

The rate of CP is much higher in preterm than terminfants, and increases with decreasing birth weight andgestational age. This is illustrated by the followingstudies:

• In a study from Europe, the rate was more than 70times higher in infants with birth weight <1500 gthan in those with birth weight >2500 g [10].

• In a population-based study from Sweden of 216children with CP born between 1987 and 1990, theprevalence was 1.4, 14, 68, and 57 for birth weights≥2500 g, 1500 to 2499 g, 1000 to 1499 g, and <1000g, respectively [11].

• Severe neuromotor disability was present in 10percent of surviving infants born at ≤25 weeksgestation in 1995 in the United Kingdom and Irelandand evaluated at 30 months of age [12].

• In a review of 42 studies published after 1970, CPoccurred in 12 percent of surviving infants born withgestational age ≤26 weeks and 8 percent of thosewith birth weight ≤800 g [13].

In an article [14] published on-line, Carla J. Johnson,Department of Speech-Language Pathology, University ofToronto has tried to summarise the answer to the questionwith available evidence till date “How many children havespeech or language disorders?” This question is importantto parents, professionals, policymakers, and researcherswho wish to understand communication disorders andoptimize assessment and intervention services for thechildren (Enderby & Pickstone, 2005). The answerrequires estimates of prevalence, “the proportion ofpeople in a defined population who have a particularcondition at any one time” (Byles, 2005, p. 2). However,several challenges make it surprisingly difficult to obtainaccurate estimates of the prevalence of various speech andlanguage disorders in children.

She has concluded that a large proportion of childrenhave speech and language disorders, which may beassociated with adverse, long-term outcomes that impacton individuals, families, and communities. A challenge forour society is to foster the science required to promotebetter futures for these children in a world whereacademic, social, and economic success relies heavily oncommunication skills (Ruben, 2000).

There is therefore, a desperate need to keep constantlytrying to capture the prevalence figures as best as possible.Our proposed combined tool can be a boon to this need ifthe medical fraternity along with its professional bodies(e.g. at the National level, Indian Academy of Pediatricsthrough its Growth, Development & Behavioral PeditricChapter, and, at the state level, by the West BengalAcademy of Pediatrics) take up the responsibilityseriously (see below for Methodology).

HEALTH SCREENING

Criteria for screening test

MS Blumberg in 1966 established certain criteria for

Review Article

Apollo Medicine, Vol. 8, No. 1, March 2011 30

Choice [17]

Informed choice to the parent: Parents must have fullinformation available to them in a form that is suitableculturally, socially and is suited to their educationalbackground. They must be given the opportunity to ‘optout’ of tests whose purpose they do not understand oraccept.

The child’s right to information should be respected inconditions, which may not be immediately necessary totest for. This is pronounced in certain genetic conditionse.g. Huntington’s Disease, which manifests in late 40’sonly and there is no prevention or disease limitationbenefits by early detection or learning about asymptomaticcarrier states.

Insurance and Law [18]

It is imperative to understand the legal implications ofa screen. If ‘missed’, litigation may well be on the cards.Health insurance may be declined on the basis of an earlydetection, say HIV screen or congenital hearing loss.

Validity of the tests [19,20]

The CHAT (Checklist for Autism in Toddlers) wasdesigned to prospectively identify autism at 18 months ofage. This age was chosen as an appropriate screen“window” because joint attention and pretend playtypically emerge at this time in normal development. TheCHAT assesses simple pretend play (appropriate use of atea set, doll play, object substitution) and the jointattentional behaviours, pointing for interest (incombination with eye contact) and following gaze, byparental report and health practitioner observationthrough direct testing. In a first study, the CHAT correctlypredicted the four undetected cases of autism at 18 monthsof age from among 41 siblings of children alreadydiagnosed with autism and therefore at higher risk ofdeveloping autism. To test the effectiveness of theCHAT in a large general population, health visitors,general practitioners, and community medicalofficers in the South Thames region of the UK used thequestionnaire with 18 month old infants as part ofroutine health screening. Of the total population of 40 818infants eligible for screening, 16 235 (39.8%) werescreened using the CHAT (mean age 18.7 (SD 1.1)months). This proportion reflected the fact that onlychildren ?2 months either side of 18 months ofage were included in the study. Key items are those thatmeasure joint attention (following a point, pointing forinterest) and pretend play as reported by parents andobserved by professionals either at home or the clinic(Table 2).

Screening Tests from John Hopkins in AM Linefeld’sChronic Diseases and Public Health, which still largelyworks as the framework for such tests. This is depicted in atabular form as Table 1 [15].

Also please refer to the criteria of Ideal Screening Testdepicted in the Table 1.

The proposed combined Screening Tool fulfils most ofthe criteria to be recommended for our local usage.Following aspects of any screening test must beconsidered none-the-less.

Emotion

Screening tests and procedures cause anxiety [16] andchange people’s perception about health and normality.General public cannot be expected to understand theconcept of screening and are seldom told the implicationof a positive test before it is carried out. Parents whosebabies have false-positive results show increased anxietylevels, which may persist for weeks or even months afterthe definitive test shows the baby to be normal. Yet theyfeel obliged to participate in the screening programme,sometimes against their own better judgement, because ofconcerns about potential regrets if a problem should be‘missed’. This phenomenon has been called “anticipateddecision regret”.

Table 1. Criteria for screening test.

Screening test Diagnostic test

1 Done on apparently Done those with indicationshealthy subjects or are sick

2 Applied to groups Applied to single patients

3 Target disease(s) is All diseases are consideredconsidered only

4 Test results are Test results are only one of arbitrary and final the aids to the final

diagnosis, which maychange with emergence ofnew clinical information

5 Based on one set Based on evaluation of acriteria or cut-off point number of symptoms, signse.g. Diabetes or and laboratory findingsHypertension

6 Less accurate More accurate

7 Less expensive More expensive

8 Not a basis for Used as a basis for treatmenttreatment

9 Investigator initiated Patient initiated

Review Article

31 Apollo Medicine, Vol. 8, No. 1, March 2011

Some children with profound developmental delay,including all those with severe sensory and motorimpairments had been excluded. Apart from children withprofound sensory and motor impairment, exclusions werenot part of the original design of the study but reflected thehealth practitioner decision not to impose additionalassessment on parents of children with preidentified,severe developmental problems. In order to minimise falsepositives, a two stage screening procedure was adopted.Children who were initially screen positive received asecond administration of the screen one month later. Usedin this two stage way, the positive predictive value of thescreening instrument was high (83% for autism and PDDusing the highest risk threshold). However, there was poorsensitivity (18%), indicating that four fifths of the childrensubsequently identified as showing autistic developmentin the study population were missed on screening. If a onestage screening procedure only had been adopted, theproportion of children with autism identified increased to38%, although in clinical use this would have entailed theassessment of more screen false positives. However, thepositive predictive value for identification of all (PDD andnon-PDD) developmental problems was 48% (see Bairdand colleagues [21] for full details). What is clear is thatwhile 9% of the screened population were reported to notproduce simple pretend play at age 18 months and 4.5%were reported to not point for interest, failing acombination of joint attention and pretend play items (by

both parental report and health practitioner observation,and on both administrations of the screen) indicated asignificant risk for developing autism.

PROPOSAL

Both M-CHAT and PSC have the advantage of beingshort and printable on each side of an A4 paper.

It is therefore, possible to combine these two tools onboth sides of a single A4 sheet only for use.

Currently, their validity are tested mainly in theEnglish speaking world.

Therefore, for the time being, it may be better to trythis new combined tool in Indian setting in their originalform. Initial usage will generate data to support or refutetheir usefulness in our day to day practice. Once this isshown to be effective even in our society, it is anticipatedthat vernacular versions may be tried for their respectivevalidity through well structured research using theappropriate expertise.

Moreover, we will have research opportunities to testthe combined tool for early detection in younger agegroup, as we can start using the M-CHAT from as early as16 months of age, while the PSC is mainly designed forthe school going population from 4th birthday onwards.Our proposed usage will generate raw data to see, if any ofthe PSC items meet statistical validity for the group of 15months to 48 months age group or not.

HOW TO USE IN PRACTICE [METHODOLOGY]

(i) Publish the screening tool

(ii) Publish the scoring methods

(iii) Encourage doctors and health professionals use thissingle A4 sheet to be distributed to their parents atvarious settings like outpatient or in-patient ofhospitals, personal chambers, health centres,community clinics, health visitors’ or Anganwariclinics or even schools during admissions or schoolhealth check-ups.

(iv) Parents return the filled-in form

(v) User (doctor or health-care professional) scores thenand there

(vi) Return the forms with the targeted referralsexplaining parents clearly to return the filled-in formwhen they access referrals

(vii) Users are encouraged to return all forms (positive or

Table 2. The five key items on the CHAT screen

Ask parent1. Does your child ever PRETEND, for example, to make

a cup of tea using a toy cup and teapot, or pretendother things?

2. Does your child ever use his/her index finger to point,to indicate INTEREST in something?

Health practitioner observation3. Get child’s attention, then point across the room at an

interesting object and say “Oh look! There’s a (nameof toy)!”Watch child’s face. Does the child look acrossto see what you are pointing at?

4. Get the child’s attention, then give child a miniaturetoy cup and teapot and say “Can you make a cup oftea?” Does the child pretend to pour out tea, drink it,etc?

5. Say to the child “Where’s the light?”, or “Show me thelight”. Does the child POINT with his/her index fingerat the light? To record YES on this item the child musthave looked up at your face around the time ofpointing.

Screening and surveillance for autism 471www.archdischild.co

Review Article

Apollo Medicine, Vol. 8, No. 1, March 2011 32

negative)

(viii) Professional body or a research funding body mayhelp in funding the pre-paid envelopes to expeditethe research process

(ix) Without such funding, we may depend on theconscientious professionals to assume thisresponsibility of returning all used forms throughself-funding, clearly writing their names and detailsso that

(x) All contributors are acknowledged duringpublication of results to express gratitude formally sothat the conscientious professional gets anopportunity to quote themselves as participants of apublished study as a desirable outcome of theirefforts.

REFERENCES

1. Hall D. ed. Health for All Children: Report of the ThirdJoint Working Party on Child Health Surveillance. 3rd ed.Oxford, England: Oxford University Press; 1996.

2. Bailey A, Le Couteur A, Gottesman I, et al. Autism as astrongly genetic disorder: evidence from a Britishtwinstudy. Psychol Med. 1995; 25: 63-77.

3. Szatmari P, Jones M, Zwaigenbaum L, MacLean J.Genetics of autism: overview and new directions. JAutism Dev Disord. 1998;28:351-368.

4. Barton M, Volkmar F. How commonly are known medicalconditions associated with autism? J Autism Dev Disord.1998;28:273-278.

5. Rutter M, Bailey A, Bolton P, Le Couteur A. Autism andknown medical conditions: myth and substance. J ChildPsychol Psychiatry. 1994;35:311-322.

6. Fombonne E. Epidemiological surveys of autism: areview. Psychol Med. 1999;29:769-786.

7. Roongpraiwan R, Ruangdaraganon N, Visudhiphan P,Santikul K: Prevalence and clinical characteristics ofdyslexia in primaryschool students. Med Assoc Thai.2002; 85 Suppl 4: S1097-103.

8. Yeargin-Allsopp, M Van Naarden Braun, K Doernberg,NS, et al. Prevalence of cerebral palsy in 8-year-old

children in three areas of the United States in 2002: amultisite collaboration. Pediatrics 2008; 121:547.

9. Nelson KB. The epidemiology of cerebral palsy in terminfants. Ment Retard Dev Disabil Res Rev 2002; 8:146.

10. Prevalence and characteristics of children with cerebralpalsy in Europe. Dev Med Child Neurol 2002; 44:633.

11. Hagberg B, Hagberg Gm, Olow I, et al. The changingpanorama of cerebral palsy in Sweden. VII. Prevalenceand origin in the birth year period 1987-90. Acta Paediatr1996; 85:954.

12. Wood NS, Marlow N, Costeloe K, et al. Neurologic anddevelopmental disability after extremely preterm birth.EPICure Study Group. N Engl J Med 2000; 343:378.

13. Lorenz JM, Wooliever DE, Jetton JR, Paneth N. Aquantitative review of mortality and developmentaldisability in extremely premature newborns. Arch PediatrAdolesc Med 1998; 152: 425.

14. Carla J. Johnson, Department of Speech-LanguagePathology, University of Toronto. Prevalence of Speechand Language Disorders in Children. Date PostedOnline: 2007-03-21 18:31:47.

15. Bhattacharya A; Neonatal Screening – The IndianPerspective. Souvenir Publication. 4th Annual PaediatricSymposium, AGH and WBAP, June 2007

16. Haggerd M. Research in the development of effectiveservices for hearing impaired people 1993. NuffieldProvincial Hospitals Trust, London.

17. Stevenson DA, Strasburger VC. Advise or consent?Issues in genetic testing of adolescents. In Hoyem HE,Greydanus DE (editors): Genetic disorders inadolescents. State of the art reviews. Adolesc Med2002;13:213-221.

18. Board of Directors. Am Soc of Human Genetics and AmCol of Med Genetics: Point to consider: Ethical, legal andpsychosocial implications of genetic testing in childrenand adolescents. Am J Hum Genet 1995;57:1233-1241.

19. G Baird, T Charman, A Cox, S Baron-Cohen, JSwettenham, S Wheelwright, A Drew. Screening andsurveillance for autism and pervasive developmentaldisorders. Arch Dis Child 2001;84:468-475.

20. Baird G, Charman T, Baron-Cohen S, et al. A screeninginstrument for autism at 18 month of age: a six-yearfollow-up study. J Am Acad Child Adolesc Psychiatry2000; 39: 694-702.

Apollo hospitals: http://www.apollohospitals.com/Twitter: https://twitter.com/HospitalsApolloYoutube: http://www.youtube.com/apollohospitalsindiaFacebook: http://www.facebook.com/TheApolloHospitalsSlideshare: http://www.slideshare.net/Apollo_HospitalsLinkedin: http://www.linkedin.com/company/apollo-hospitalsBlog:Blog: http://www.letstalkhealth.in/