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Research Article

DOI:10.4172/2472-1786.100020

Journal of Childhood & Developmental DisordersISSN 2472-1786

1© Under License of Creative Commons Attribution 3.0 License | This article is available in: http://childhood-developmental-disorders.imedpub.com/archive.php

Amelia K Lewis1, Melanie A Porter1,2,3, Tracey A Williams3,4, Kathryn N North5,6 and Jonathan M Payne5,6

1 DepartmentofPsychology,MacquarieUniversity,Sydney,NewSouthWales,Australia

2 CentreforAtypicalNeurodevelopment,MacquarieUniversity,Sydney,NewSouthWales,Australia

3 ARCCentreofExcellenceinCognitionandItsDisorders,MacquarieUniversity,Sydney,NewSouthWales,Australia

4 KidsRehab,TheChildren’sHospitalatWestmead,Sydney,NewSouthWales,Australia

5 MurdochChildrensResearchInstitute,TheRoyalChildren’sHospital,Melbourne,Victoria,Australia

6 DepartmentofPaediatrics,FacultyofMedicine,DentistryandHealthSciences,UniversityofMelbourne,Melbourne,Victoria,Australia

Corresponding author: MelaniePorter

[email protected]

DepartmentofPsychology,MacquarieUniversityNSW2109,Australia.

Tel: +61298506768

Citation: LewisAK,PorterMA,WilliamsTA,etal.SocialCompetenceinChildrenwithNeurofibromatosisType1:RelationshipswithPsychopathologyandCognitiveAbility.JChildDevDisord.2016,2:2.

Social Competence in Children with Neurofibromatosis Type 1: Relationships with

Psychopathology and Cognitive Ability

AbstractTitle:Socialcompetenceinchildrenwithneurofibromatosistype1:Relationshipswithpsychopathologyandcognitiveability.

Background:Neurofibromatosis type1 (NF1) is a neurodevelopmental disorderassociated with elevated risk of specific cognitive impairments and a highprevalence of psychological comorbidities. Children with NF1 have also beenreported to display significant difficultieswith peer relationships, although theexact nature of their social competence difficulties remains unclear. This studyaimed to explore the nature of the day to day social competence difficultiesobserved in children with NF1 and to investigate how these difficulties mightrelatetocognitivedysfunctionandsymptomsofpsychopathology.

MethodsandFindings:Thisstudyinvestigatedparentratingsofdaytodaysocialcompetencein23childrenwithneurofibromatosistype1(NF1)comparedto23chronologicalage-matchedtypicallydevelopingcontrolsusingabrief,standardisedquestionnaire-theSocialCompetencewithPeersQuestionnaire.Therelationshipsbetween social competence, psychopathology (parent ratings of AttentionDeficit Hyperactivity Disorder or Autism Spectrum Disorder symptomatology),and cognitive ability (Full Scale IQ and parent ratings of functional executivebehaviour)inchildrenwithNF1werealsoexploredusingcorrelationalanalyses.Results indicated that children with NF1 displayed significantly poorer day todaysocialcompetencethancontrols.ThesesocialcompetencedeficitswerenotrelatedtoAttentionDeficitHyperactivityDisordersymptomatology,FullScaleIQor functional executivebehaviour.However, difficultieswith social competencewere significantly related to Autism Spectrum Disorder symptomatology andsociallyanxious/avoidantbehavioursinourNF1cohort.

Conclusions:TheseresultsindicatethatchildrenwithNF1areatsignificantriskofdaytodaysocialcompetencedifficulties,especiallythosewhodisplayhighlevelsofautisticsymptomatologyandsociallyanxiousbehaviour.Ourfindingssuggestaneedto incorporatescreening forsocialcompetenceproblemsandcomorbidpsychopathologyintothemoregeneralclinicalmanagementofchildrenwithNF1.

Keywords: Social competence; Neurofibromatosis type 1; Psychopathology;Cognition

Received: January29,2016; Accepted: March14,2016; Published: March21,2016

IntroductionNeurofibromatosistype1(NF1)isanautosomaldominantgeneticdisorderwithanestimatedprevalenceofapproximately1in3,000.Thecondition is causedbyamutationof theNF1geneon the

longarmofchromosome17[1]andisassociatedwithdistinctivephysical characteristics, neurofibromas (benign tumours);skinfold freckling; café-au-lait macules (pigmented birthmarks)and Lisch nodules (melanocytic hamartomas affecting the iris)[2].There is considerablevariability in theclinicalpresentation

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ofchildrenwithNF1[3],howevercommoncomplicationsofthecondition include specific cognitive impairments [4, 5] and ahighprevalenceofpsychologicalcomorbidities[6,7].Poorsocialskills and difficultieswith interpersonal relationships have alsobeen reported in NF1 [8, 9], although the latter is particularlyunder-researched. As such, the aim of the current study wasto investigate, ingreaterdetail, thenatureofday todaysocialcompetence difficulties in children with NF1. A second andrelatedaimwasto investigatehowlevelsofsocialcompetenceinchildrenwithNF1mightrelatetocognitivedysfunctionand/orsymptomsofpsychopathology.

Specific cognitive impairmentsCognitive impairment is widespread in NF1, affectingapproximately 80% of children with the condition [4]. Deficitsinattention,visuospatialskills,language,andexecutivefunction(includingplanning,organisation,inhibition,andself-monitoring)aremostcommon[4,10-12].Incontrast,intellectualfunctioningtypicallyfallsbroadlywithinthenormalrange,althoughadistinctandreliabledownwardshiftinoverallintelligencelevelscomparedwithboththegeneralpopulationandunaffectedsiblingcontrolshasbeenconsistentlyreported[4,13,14].Academicdifficultiesarealsocommon,withbetween50and70%ofchildrenwithNF1demonstratingimpairmentsinliteracyornumeracyskills[15,16]andapproximately20%estimatedtomeetcriteriaforalearningdisability[16].

Psychological comorbiditiesRecentstudieshavedocumentedawiderangeofpsychologicaldisorders associated with NF1 [6, 17]. Reports indicate thatAttention Deficit Hyperactivity Disorder (ADHD) occurs in 30%to50%ofindividualswithNF1[4,18,19].Thisishighcomparedtotherateofapproximately5%inthegeneralpopulation[20].ChildrenwithNF1alsodisplayasignificantlyhigherprevalenceof autism spectrum disorder (ASD) symptomatology comparedto the general population, with three recent studies reportingthatbetween11%and29%ofchildrenwithNF1areratedwithinthe severe range on the Social Responsiveness Scale [21] (ascreeningmeasure of ASD symptomatology); a range which isstrongly associatedwith a clinical diagnosis ofASD [6, 22, 23].Importantly, however, NF1 is associated with impairments inseveraldomainsthatoverlapwithASD(includingdelayedsocial,executive, and language skills), and so the true prevalence ofASDinNF1maybelowerthanthesereportswouldindicate[24].Nevertheless,arecentpopulation-basedepidemiologicstudyofchildrenandadolescentsinwithNF1usingdiagnosticassessmenttoolsestimatedapopulationASDprevalenceof24.9%[25],wellabovetheestimatedgeneralpopulationprevalenceof1.5%[26].

InadditiontoADHDandASD,thereissomeevidencetosuggestapredispositiontowardsanxietydisordersinchildrenwithNF1[17].TheprevalenceofanxietydisordersintheadultNF1populationhasbeenestimatedatbetween1%and6%[27],whichisgenerallyin keeping with the rates observed in the general population[28]. Nevertheless, Pasini et al. [17] showed that children andadolescentswithNF1displaysignificantlyhigherlevelsofanxietysymptomatologyonaself-reportmeasurecomparedtohealthycontrols,althoughthesechildrendidnotdiffersignificantlyfrom

controls on any disorder-specific subscales, including: physicalsymptoms;harmavoidance;socialanxietyandseparationpanic.Theauthorsnotedamoderatecorrelationbetweensocialanxietysymptomsanddiseaseseverity,suchthatparticipantswithmoresevere physical manifestations of NF1 reported significantlyhigherlevelsofsocialanxiety[17].Notably,however,significantanxiety(andparticularlysocialanxiety)hasbeendocumentedinADHD[29,30]andASD[31,32],makingitdifficulttoteaseapartthesepsychologicalcomorbiditiesinchildrenwithNF1.

Social skills in NF1ResearchaddressingsocialfunctioninginNF1isinitsinfancyandhas tended to focus primarily on social informationprocessing(especially emotion recognition skills), emotional problems,and social behaviour [33, 34]. For example, Huijbregts and DeSonneville [5] foundthatchildrenwithNF1displaysignificantlyhigher levels of emotional, conduct andpeer-relatedproblemscomparedtotypicallydevelopingcontrols.TheirNF1cohortalsoperformedsignificantlyworsethancontrolsonsocialinformationprocessingtasksthatrequiredthemtoidentifyandmatchfacialexpressionsofemotion. Inkeepingwiththesefindings,specificemotionrecognitiondeficitshavebeendocumentedinchildrenwith NF1, with Huijbregts et al. [33] showing that childrenand adolescents with NF1 demonstrate significant difficultyrecognisingandmatchingfacialexpressionsoffearandanger.Thesameemotionrecognitiondeficitshavealsobeendocumentedin theadultNF1population,with additional deficits evident inidentifying whether conversational exchanges were sincere orsarcastic[35].

Ingeneral,informantreportsofsocialandemotionalfunctioningin children with NF1 indicate a high incidence of social andbehaviouralproblems[5,8,36,37].Furthermore,severalstudieshave documented discrepancies between self-report ratings ofsocialskillsandinformant(parentandteacher)ratings,suggestingthatchildrenwithNF1mayperhapslackawarenessoftheirownsocial andbehaviouraldifficulties [8,36]. SimilarpatternshavebeendocumentedinadultswithNF1,whohavebeenreportedtodisplay lessprosocialbehaviourthanthenormalpopulation,as well as reduced awareness of their deficits in social skills[34].Takentogether,thesefindingssuggestdeficitsinaspectsofsocial awareness, social perception and social cognition in thispopulation.

Social competence in NF1Anecdotally,childrenwithNF1demonstrateconsiderablesocialdifficultiesonadaytodaylevel,withreportsfromchildrenwithNF1andtheirparentssuggestingthattheyareoftenteasedandrejectedbytheirpeersandhavedifficultyformingandmaintainingfriendships [38]. Nevertheless, only two studies to date havedirectlyexaminedsocialcompetence inchildren inNF1.Bartonand North [8] investigated social skills and social outcomes inchildrenwithNF1usingparentandteacherratingsontheSocialSkillsRatingSystem(SSRS)[39]andtheChildBehaviourChecklist(CBCL) [40]. Children with NF1 were rated by both parentsand teachers as having significantly poorer social competencecompared with their unaffected siblings, despite there beingno significant difference between the groups in terms of their

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general social skills, including: cooperativeness; assertiveness;responsibilityandself-control.ThepresenceofADHDwasfoundtosignificantlyincreasetheriskofsocialcompetenceproblemsinchildrenwithNF1,withthosewithacomorbidADHDdiagnosis1 performingsignificantlyworseonmeasuresofsocialcompetence;theyalsodisplayedsignificantlygreaterdifficultywithsocialskillsand social problems. In keeping with these findings, Noll andcolleagues[9]foundthatchildrenandadolescentswithNF1hadsignificantlyfewerreciprocal friendshipsandwereratedas lesswell likedbytheirpeerscomparedtotheirtypicallydevelopingclassmates,despitebeingratedbyteachersandpeersasbeingmoreprosocial. Parentsalso ratedchildrenwithNF1ashavingsignificantly greater difficulties with social competence on theCBCL. The authors noted that social difficulties in their sampleappearedtobethemostsevereforthosechildrenwithcomorbidlearningdifficultiesand/orADHD;however,thiswasnotformallyaddressedstatistically[9].

Thereissomeevidencetosuggestthatgeneralcognitiveabilitymay be related to social and behavioural functioning in NF1,although the exact nature of the relationship between socialcompetence and cognitive ability in this population remainsunclear.HuijbregtsandDeSonneville[5]reportedthatdeficitsingeneralcognitiveability(acompositescorecomprisingmeasuresofprocessingspeed,socialinformationprocessing,andcognitivecontrol) contributed significantly to emotional problems andreduced social responsiveness in children and adolescentswith NF1. Nevertheless, the impact of specific cognitiveimpairmentsondaytodaysocialcompetence(forexample,therole of executive dysfunction) requires further investigation.Notably,NF1 is associatedwith significant functional executivedifficulties,withparticulardeficitsevidentinsustainingworkingmemory, self-monitoring, and planning and organisation [11].Executive functionandsocial competencehavebeenshowntobe significantly related in the typically developing population[41,42], and in other developmental disorders, including ASD[43],butnopublishedstudytodatehasdirectlyinvestigatedtherelationshipbetweenexecutivefunctionandsocialcompetenceinNF1.

Previous research on social competence in children with NF1hasreliedheavilyontheSocialProblemsandSocialCompetenceindices of the CBCL [8, 9, 37]. While this is a valid, reliable,standardised and commercially available measure, only fouritemsacrossbothoftheseindicesdirectlyaddressthequantityandqualityofchildren’sfriendshipswiththeirsame-agepeers2,with the remainder of the items relating to behaviour andpersonalitycharacteristics(e.g.“dependent”,“clumsy”),aswellasfamilyrelationshipsandparticipationinteamsandorganisations.Assuch,theprecisenatureofthesocialcompetenceproblemsreported inchildrenandadolescentswithNF1remainsunclearand warrants further investigation. Furthermore, no publishedstudies to date have directly explored whether interpersonal1ADHD was diagnosed in this study based on parent and teacher questionnaire ratings, neuropsychological test performance, and clinical presentation as part of a concurrent study [8].2The Social Problems index on the CBCL contains only two out of 11 items (“gets teased” and “not liked”) which directly pertains to the quality of children’s relationships with their peers. Similarly, the CBCL Social Competence index contains only two items relating to children’s friendships (“number of friends” and “frequency of contact with friends”).

relationships in NF1 are associated with cognitive and/orpsychological impairment. It is extremely important to identifythenatureofsocialcompetenceproblemsinchildrenwithNF1and potential cognitive and psychological risk factors, as thisinformationwill assist cliniciansworkingwith these children inselectingappropriatescreeningmeasuresandprovidingtargetedinterventionrecommendations.

Aims of the current studyInlightoftheabove,theprimaryaimofthepresentstudywastogainamorecomprehensiveunderstandingofdaytodaysocialcompetence in childrenwithNF1using theparent formof theSocialCompetencewithPeersQuestionnaire(SCPQ-P)[44],anineitemquestionnairewithexcellentpsychometricpropertieswhichwasspecificallydesignedtoexploreinterpersonalrelationships,perceived popularity, and involvement in social activities inschool-aged children. In keeping with previous findings [8,9], it was hypothesised that, overall, children with NF1 woulddemonstrate poorer social competence compared with theirtypically developing peers (Hypothesis 1). However, given thevariabilityobservedintheclinicalphenotypeofchildrenwithNF1[43,45],significantvariabilityintheirsocialcompetencewasalsoanticipated(Hypothesis2).

The secondaimof this studywas toexamine the relationshipsbetweensocialcompetenceandADHDandASDsymptomatologyin childrenwithNF1.Althoughprevious studieshave indicatedpoorer social skills and social competence in children withNF1 and comorbid ADHD [8, 9], the potential influence ofautistic traits on social outcomes in NF1 has received littleempirical attention.Asup toonequarterof childrenwithNF1demonstratesignificantlyelevatedsymptomsofbothADHDandASD[6], it is importanttodeterminetowhatextentADHDandASD symptomatology are contributing to social competenceproblems inNF1. Conversely, it is also important to determinewhetherornotsocialcompetencedifficultiesexistinNF1intheabsenceofcomorbidpsychopathology.ItwashypothesisedthatreducedsocialcompetencewouldbeidentifiedeveninchildrenwithNF1andnopsychologicaldiagnosis (Hypothesis3). Itwasalso hypothesised that higher levels of both ADHD and ASDsymptomatologywouldberelatedtopoorersocialcompetenceinchildrenwithNF1(Hypothesis4).

The final aim of the present study was to investigate therelationship between social competence and cognitivefunctioninginchildrenwithNF1,particularlygeneralintellectualfunctioning (FSIQ) and executive function. Itwas hypothesisedthatsocialcompetencewouldnotberelatedtooveralllevelsofintellectual functioning in childrenwith NF1 (Hypothesis 5). Inkeepingwithobservationsfromtypicallydevelopingchildren[41,42],itwashypothesisedthatsocialcompetencewouldberelatedtodaytodayexecutivefunctioninchildrenwithNF1,suchthatchildren with more executive difficulties would display lowersocialcompetence(Hypothesis6).

MethodsParticipantsNF1 participants in this study were recruited through the


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Neurogenetics Clinic at The Children’s Hospital at Westmead(CHW),Sydney,Australia.Thisclinichasawidereferralbaseandcatersforover1300individualswithNF1,withallsocioeconomicgroupsrepresented.Questionnaireswereprovidedtotheparentsof 30 children with NF1 who were participating in additionalresearch studies atCHW from January2011 to February2014.Thesechildrenmetthefollowinginclusioncriteria:(a)confirmeddiagnosis of NF1 based on criteria specified by the NationalInstitutesofHealthConsensusConference [46]; (b) absenceofdiagnosed intracranial pathology (e.g. epilepsy, traumaticbraininjury,orbraintumour);(c)anIQ≥70;(d)nocurrentorpreviousdiagnosis of anxiety disorder, mood disorder, or psychoticdisorder; and (e) competency in the English language.NoNF1participantshadtobeexcludedbasedonthesecriteria.Ofthe30setsofquestionnairesprovided,sevenwerenotreturned,leavingafinalsampleof23childrenwithNF1(15females,8males)agedbetween6.67and13.83years (M=10.04,SD=2.12).The ‘noresponse’ group (6 females, 1male) had amean age of 10.82years (SD = 1.55) and amean FSIQof 90.43 (SD = 12.93), anddidnotdiffersignificantly fromtheparticipants included inthepresent study on any demographic variables (all, p > 0.10). AreviewofclinicalrecordsrevealedthatfiveNF1participantshadadiagnosisofADHD.NoNF1participanthadadiagnosisofASD.ForNF1participants,Full Scale IQ (FSIQ)wasestablishedusingthe Wechsler Intelligence Scale for Children - Fourth Edition(WISC-IV)[47].

Twenty-three typically developing (TD) controls (9 females, 14males)wererecruitedthroughNeuronauts:akids’scienceclubatMacquarieUniversity,Sydney,Australia.TDparticipantswereagedbetween6.67 and 13.42 years (M= 9.92, SD = 1.97). TDcontrol children were excluded from the study if they had ahistory of developmental delay, IQ < 70, sensory impairments,diagnosed neurological or psychiatric disorder, or English as asecond language.NoTDcontrolshad tobeexcludedbasedonthese criteria.Asa screeningmeasure, FSIQwasestimated forTDcontrolparticipantsusingtheWechslerAbbreviatedScaleofIntelligence(WASI)[48].

NF1andTDcontrolgroupswerematchedforchronologicalage(within6monthsofage)attheindividuallevelandhandednessatthegrouplevel.Table 1displaysthedemographiccharacteristicsofeachgroup.As shown inTable 1, a chi-square test revealednosignificantdifferenceinsexdistributionbetweenthegroups,although a non-significant trend was observed. Independentsamples t test revealed the two groupswerewellmatched in

termsofage.ConsistentwithliteratureshowingdownwardshiftsinFSIQ inNF1 [4,13,14], the twogroupsdifferedsignificantlyin termsof their FSIQ scores, albeit ondifferentmeasurementinstruments. On average, the NF1 group fell within the lowaverageIQrangeandtheTDcontrolgroupfellwithintheaverageIQ range. Overall, the clinical sample was considered to beadequatelyrepresentativeofthewiderNF1populationandtheTDgroupwereconsideredtobetypicallydeveloping.3

MaterialsBoth groupsSocial competence with peers questionnaire - parent form (SCPQ-P)Social competencewasassessedusing theSCPQ-P [44], anineitem questionnaire addressing the quality and quantity ofchildren’s friendships, perceivedpopularity, thenatureof theirrelationshipswithchildrenofthesameage,andtheirinvolvementinsocialactivities(e.g.beinginvitedtopartiesandseeingfriendsatweekends).Itemsareratedonathree-pointLikertscalefrom0 (not true) to 2 (mostly true), with higher scores indicatinggreatersocialcompetence.Thepsychometricpropertiesof thisscale are very respectable, with a reported Guttman split-halfreliability coefficientof0.87and coefficient alphaof0.81 [44].TheSCPQ-Pwasdevelopedtoelicitparentalassessmentofsocialcompetencedifficultiesinschool-agedchildren,withthegoalofprovidingdetailsfortargetedinterventionforchildrenwithsocialproblems.Assuch,itiswell-suitedtotheinvestigationofsocialcompetenceinaclinicalpopulation.

There are normative data for the SCPQ-P for children agedbetween8and17years [44]. In this sample, themeanparentratingwas14.82/18(SD=3.12),andtherewasnoeffectofageorgender.However,asthesampleinthepresentstudyincluded6and7yearolds,itwasconsideredmostappropriatetocompareresults against a sample individuallymatched for chronologicalage.

NF1 GroupConners3-parentlongform(Conners3-PL)

TheConners3-PL[49]wasadministeredtotheNF1group.TheConners3-PLisastandardised,commerciallyavailablemeasure3One TD control participant fell at the upper end of the borderline IQ range, and two TD participants had IQs > 120, however these participants were not outliers from the TD group as a whole in terms of their SCPQ–P ratings. Notably, FSIQ did not correlate significantly with SCPQ–P ratings in the TD control sample (p = 0.369).

NF1 group Mean (SD) Range TD group Mean (SD) Range t score p valueMales:Females 8:15 14:9 3.136* 0.077

ChronologicalAge 10.04(2.12)6.67–13.83

9.92(1.97)6.67–13.42 0.210 0.835

FSIQ 87.48(10.33)a71.00–109.00

107.61(12.40)b79.00–134.00 -5.981 <0.001

Note:Chronologicalageisinyears.FSIQscoresfromboththeWISC-IVandWASIarestandardisedagainstanormativemeanof100.00andastandarddeviationof15.00.*Chi-squarestatisticaFSIQmeasuredusingWISC-IVbFSIQmeasuredusingWASI

Table 1Demographiccharacteristicsforeachgroup.

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usedtoassistintheevaluation,diagnosisandtreatmentresponseofchildrenwithADHD.ItprovidesstandardisedscoresofADHDsymptoms,aswellascomorbiddisordersincludingOppositionalDefiant Disorder and Conduct Disorder. The scale comprises105 items, each rated on a four-point Likert scale from 0 (notatall true) to3 (verymuchtrue),withhigherscores indicatinggreaterdifficulty.Theseitemscontributetosixseparatecontentscales:Inattention,Hyperactivity/Impulsivity,LearningProblems,ExecutiveFunctioning,Defiance/Aggression,andPeerRelations.RawscoresareconvertedintoT-scoresbasedonageandgendernorms. T-scores between 60 and 64 are considered “elevated”and are associated with more concerns than is normal, whileT-scores ≥ 65 on each scale are “very elevated” and indicatesignificantareasofconcern.Social responsiveness scale (SRS) parent form

The parent form of the SRS [21]was administered to theNF1group. The SRS is an instrument designed to identify socialdifficulties and symptoms of autism spectrum disorders inchildrenandadolescentsagedbetween4and18years.TheSRScomprises65itemsthatformfiveseparatetreatmentsubscales:SocialAwareness,SocialCognition,SocialCommunication,SocialMotivation(includingsociallyanxiousandavoidantbehaviours),andAutisticMannerisms. Itemsareratedonafour-pointLikertscalefrom1(nevertrue)to4(almostalwaystrue)andrawscoresareconvertedintoT-scoresbasedongendernorms,withhigherscoresindicatinggreatersocialdifficulties.Scoresobtainedacrossthe treatment subscales are summed to provide a SRS totalscore.TotalSRST-scoresbetween60and75(mildtomoderaterange)indicateclinicallysignificantlevelsofautistictraitsandaretypicalforchildrenwithlesssevereASD[21].TotalSRST-scoresof 76 ormore (severe range) indicate a severe interference ineveryday social interactions and are strongly associated withthe presenceof ASD.At the treatment subscale level, T-scores≥ 60 are considered clinically significant and suggest that aparticularareamayrequiretreatmentor intervention[21].TheSRShasrespectablepsychometricpropertiesandhaspreviouslybeen used to investigate autism spectrum symptomatology inpopulationswithNF1[6,22,23].Behavior rating inventory of executive function (BRIEF) - parent versionParents/guardiansof theNF1group completed theBRIEF [50].The BRIEF comprises 86 items aimed at assessing day to dayexecutive abilities. These items contribute to eight separatesubscales: Inhibit, Shift, Emotional Control, Initiate, WorkingMemory,Plan/Organize,OrganizationofMaterials,andMonitor.ScoresontheInhibition,Shift,andEmotionalControlsubscalesare summed to provide a Behavioral Regulation Index, andscores on the remaining subscales are summed to provide aMetacognitionIndex.Aglobalcompositescore(GlobalExecutiveComposite) is alsogenerated, incorporatingall eight subscales.Rawscoresonall indicesareconverted intoT-scoresbasedonage norms, with higher T-scores indicating more problematicbehaviours.T-scores≥65areconsideredclinicallysignificant.TheBRIEFhashighinternalconsistency(0.80to0.98)andhightest-retestreliability[51].

Wechsler intelligence scale for children - fourth edition (WISC-IV)TheWISC-IV [47] is one of themostwidely usedmeasures ofintelligence for children aged between 6 and 16 years. TheWISC-IV is made up of ten core subtests which contribute tofour composite indices (Verbal Comprehension, PerceptualReasoning,WorkingMemory,andProcessingSpeed),aswellasaglobalFSIQscore.Thetesttakesbetween60and80minutesto administer. There are published WISC-IV Australian norms,withscoresstandardisedagainstameanof100andastandarddeviationof15.

ResultsDatawereanalysedusingPredictiveAnalyticsSoftWare(PASW)Version 18 for Windows. Initial investigations revealed thatdatawerenotnormallydistributedandthattherewasunequalvariance between groups, so non-parametric analyses wereused.MeanrawscoresontheSCPQ-PandstandardisedT-scoreson theSRS,Conners3-PL,andBRIEFsubscaleswerecomparedbetweengroupsusing theMann-WhitneyU test.Relationshipsbetween social competence, Conners 3-PL ratings, SRS ratings,BRIEF ratings,andFSIQ in theNF1groupwereexaminedusingSpearman’srhocorrelations.CorrelationswerebasedonSCPQ-Prawscoresandstandardised (age-adjusted) scores forallothermeasures.Thiswasconsideredtobeappropriate,asapreviousnormative study revealed that there was no effect of age onSCPQ-Pratingsinatypicallydevelopingsampleagedbetween8and17years[44].Furthermore,statisticalinvestigationsrevealedthat there was no relationship between age and SCPQ-P rawscoresinthepresentNF1sample(ρ=-0.161,p=0.463).

Due to the relatively small sample size in the present study,apvalueof .05wasused forall analyses to indicate statisticalsignificanceinordertoreducethelikelihoodofTypeIIerror[52].

Do children with NF1 display lower and more variable social competencies than their TD peers?Figure 1 shows the mean social competence ratings for NF1andTDcontrolgroups.OntheSCPQ-P,theNF1groupdisplayedsignificantlyloweroverallsocialcompetenceratingscomparedtoTDcontrols (Z= -2.59,p=0.010)4.Moreover, Levene’s test forequalityofvariances revealedsignificantlygreatervariability intotal social competence ratings for theNF1 children comparedwiththeTDcontrolgroup(F=20.73,p<0.001).

Item-level analyses revealed that NF1 children displayedsignificantly lower ratings on the following items comparedtocontrols: ‘hasat leastoneclose friend’ (Z= -3.29,p= .001),‘has stable friendships with other kids his/her age’ (Z = -2.77,p=0.006),‘findsiteasytomakefriends’(Z=-2.31,p=0.021),‘hasgood relationshipswith classmates’ (Z= -2.34,p=0.020),‘is popular amongst others his/her age’ (Z = -3.16, p = 0.002),and ‘seesa friendor friendssociallyatweekends’ (Z= -2.62,p= 0.009). Ratingswere similar betweenNF1 and TD groupsonthefollowingitems:‘otherkidsinvitehim/hertotheirhomes’(Z4The mean for the NF1 sample was also compared with the normative mean [44] using the One-Sample Wilcoxon Signed Ranks Test. The NF1 group displayed significantly lower social competence ratings than the normative population (p = 0.033).


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=-1.88,p= .060), ‘otherkids invitehim/hertosocialeventsoractivities’(Z=-1.89,p=0.059),and‘getsinvitedtoparties’(Z=-1.69,p=.090).

ToaddressthepossibilityofbiasduetogendereffectsonSCPQ-Pratings,correlationsbetweenthesevariableswereexaminedfortheNF1andTDcontrolgroups.TherewasnosignificanteffectofgenderonSCPQ-Pratings(both,p≥0.236).

Do those children with NF1 who do not have co-morbid ADHD or ASD demonstrate social competence difficulties?TodeterminewhetherNF1participantswithnocomorbidADHDorASDdiagnosisdemonstratesocialcompetencedifficulties,thepreviousanalyseswererepeatedafterexclusionofthefiveNF1participants with a comorbid psychological diagnosis (ADHD).Even after exclusion of those participants with psychologicalcomorbidities,theNF1groupdisplayedsignificantlyloweroverallsocialcompetenceratingscomparedtoTDcontrols(Z=-2.01,p=0.045).Again,Levene’stestforequalityofvariancesrevealedsignificantlygreatervariabilityintotalsocialcompetenceratingsfor theNF1 children comparedwith the TD control group (F =9.65,p=0.004).

General performance on psychological and cognitive questionnaire measuresConners 3-PL ratings in the NF1 groupTable 2showsthemeanConners3-PLratingsfortheNF1groupand the percentage of the sample falling within the “veryelevated”orclinicalrange(meanT-scores≥65)oneachsubscale.On average, the NF1 group displayed very elevated ratings onthedomainsofInattentionandLearningProblemsrelativetothenormativepopulation.However,parentratingsofHyperactivity/Impulsivity, Executive Functioning, Defiance/Aggression, andPeerRelationswerewithinnormallimits(meanT-scores<65).Social responsiveness scale ratings in the NF1 groupTable 3showstheaverageSRSprofilesfortheNF1group.Notably,17.4%oftheNF1groupfellwithinthesevererange(totalT-score>75),arangewhichistypicallyassociatedwithaclinicaldiagnosisofASD.ThemostcommonlyreporteddifficultiesintheNF1group

wererelatedtoSocialMotivation(sociallyanxiousandavoidantbehaviours),whichwereclinicallyelevatedin43.5%oftheNF1sample.ThiswasfollowedbyAutisticMannerisms(e.g.unusuallynarrow range of interests, repetitive behaviours), which wereclinicallyelevatedin39.1%oftheNF1group.BRIEF ratings in the NF1 groupTable 4showstheaverageBRIEFratingsfortheNF1group.Onaverage, the NF1 group fell within normal limits on all BRIEFindices (allmeanT-scores<65). Themost commonly reporteddomainofdifficultywasWorkingMemory (occurring inalmost40%ofthecohort),followedbyInitiate,ShiftandPlan/Organize.

CorrelationsSpearman’s rho correlations were conducted to explore therelationships between social competence and Conners 3-PLratings, SRS ratings, BRIEF ratings, and FSIQ. Correlations aredisplayedinTable 5.

Mean (SD)Range

% in Very Elevated Range

Inattention 66.61*(14.30)45.00–90.00 43.5%

Hyperactivity/Impulsivity 62.52(16.49)42.00–90.00 39.1%

LearningProblems 69.91*(12.85)49.00–90.00 56.5%

ExecutiveFunctioning 61.09(12.50)38.00–86.00 39.1%

Defiance/Aggression 54.70 (13.73)41.00–90.00 21.7%

PeerRelations 62.70(16.41)43.00–90.00 39.1%

Note: T-scoreshaveameanof50andastandarddeviationof10.Scores≥65ontheConners3–PLrepresentsareasofclinicalsignificance.*T-score≥65

Table 2MeanT-scoresontheConners3–PLfortheNF1group.

Mean (SD) % in Clinical Range

Range Mild to Moderate(60 ≤ T < 76)

Severe(T > 75)

SocialAwareness 55.52(13.72)38.00–91.00 26.1% 4.3%

SocialCognition 57.61(15.87)36.00–92.00 21.7% 17.4%

SocialCommunication

58.65(13.99)42.00–88.00 21.7% 17.4%

SocialMotivation 57.52(12.58)40.00–89.00 34.8% 8.7%

AutisticMannerisms 63.39*(18.24)40.00–105.00 13.0% 26.1%

SRSTotalScore 60.09(15.49)41.00–93.00 26.1% 17.4%

Table 3MeanT-scoresonthesocialresponsivenessscale(SRS)fortheNF1group.

Note: T-scoreshaveameanof50andastandarddeviationof10.T-scores≥60areconsideredclinicallyelevated. *T-score≥60

18

16

14

12

10

8

6

4

2

0

SCPQ

-P T

otal

Raw

Scor

e

NF1Group

TD

Figure 1 MeanSCPQ-PratingsforNF1andTDcontrolgroups.Barsrepresent+/-1standarderror.*=p<0.05.

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Does social competence relate to psychopathology (ADHD and ASD symptomatology) in NF1?The relationships between social competence and ADHDsymptomatology (Conners 3-PL ratings of Inattention andHyperactivity/Impulsivity)andASDsymptomatology(SRSratings)in theNF1groupwere investigated.No significantassociationswere identified between ADHD symptoms (Inattention,Hyperactivity/Impulsivity)andSCPQ-PratingsforNF1participants(both,p>0.395).SCPQ-Pratingsweresignificantlyandnegativelycorrelatedwithtotallevelsofautisticsymptomatology(SRSTotalScore;p=0.048)andalsowiththeSRSSocialCommunication(p=0.049),SocialMotivation(p=0.003)andAutisticMannerisms(p=0.045)subscales.

Does social competence relate to cognition in NF1?The relationships between social competence, FSIQ, and dayto day executive function (BRIEF and Conners 3-PL ExecutiveFunctioningscaleratings)intheNF1groupwerealsoinvestigated.SCPQ-P ratings were not significantly correlated with FSIQ (p= 0.870). Furthermore, SCPQ-P ratings were not significantlycorrelatedwithparentratingsofexecutivefunctionontheBRIEFsubscalesandindices(all,p>0.05)ortheConners3-PLExecutiveFunctioningcontentscale(all,p>0.05).

DiscussionThe aims of this study were threefold: (1) to investigate thenatureofsocialcompetenceinchildrenwithNF1,(2)toexplorerelationshipsbetween social competenceandpsychopathologyin NF1, and (3) to examine the relationships between socialcompetence,cognitionandbehaviour inNF1. Inrelationtothefirst aim, in linewith our hypothesis (Hypothesis 1), the socialcompetenceofchildrenwithNF1differedsignificantlyfromthatof typically developing children. Childrenwith NF1were ratedby their parents as having significantly poorer overall socialcompetence,replicatingfindingsfrompreviousstudiesusinglesscomprehensivemeasures[8,9,37].However,thepresentstudyextended existing findings by providing additional informationas to the specific nature of these social competence deficits.At the group level, childrenwith NF1 had significantly greaterdifficultyformingandmaintainingfriendships,hadpooreroverallrelationshipswiththeirclassmates,werelesspopularthantheirsame-age peers, andwere less likely to see friends outside ofschoolcomparedwithTDcontrols.Notably,scoresontheSCPQ-Pwere strongly correlatedwith scoreson theConners3-PLPeerRelations scale, supporting its validity as a measure of socialcompetence for children with NF1. As predicted (Hypothesis2), therewas significantlygreater individual variability in socialcompetence ratings among childrenwithNF1when comparedwiththeTDcontrolgroup,withsomeNF1childrenfallinginthenormalrange,andothersdemonstratingsignificantimpairmentsin day to day social competence. This indicates that certainchildrenwithNF1aremorevulnerabletosocialdifficultiesthanothers.

Mean (SD) Range % in Clinically Significant Range

Inhibit 52.83(12.58)38.00–87.00 17.4%

Shift 55.74(14.79)39.00–88.00 30.4%

EmotionalControl 52.52(14.15)36.00–80.00 17.4%

BehaviorRegulationIndex 53.91(13.80)36.00–86.00 21.7%

Initiate 58.39(12.26)40.00–79.00 34.8%

WorkingMemory 60.26(11.09)36.00–81.00 39.1%

Plan/Organize 58.61(11.40)41.00–80.00 30.4%

OrganizationofMaterials 54.87(11.04)37.00–71.00 26.1%

Monitor 57.74(10.22)40.00–75.00 21.7%

MetacognitionIndex 59.43(11.31)39.00–81.00 34.8%

GlobalExecutiveComposite 57.78(12.35)38.00–80.00 30.4%

Note: T-scoreshaveameanof50andastandarddeviationof10.T-scores≥65ontheBRIEFrepresentareasofsignificantdifficulty.

Table 4 Mean t-scores on the behavior rating inventory of executive function in the NF1 group.

Spearman’s correlation (ρ) p value

Conners 3–PL Content ScoresInattention 0.020 0.930Hyperactivity/Impulsivity 0.186 0.395LearningProblems -0.156 0.478ExecutiveFunctioning -0.218 0.317Defiance/Aggression 0.087 0.693PeerRelations -0.802 <0.001**Social Responsiveness Scale ScoresSocialAwareness -0.069 0.753SocialCognition -0.283 0.191SocialCommunication -0.415 0.049*SocialMotivation -0.591 0.003**AutisticMannerisms -0.422 0.045*SRSTotalScore -0.426 0.042*Behavior Rating Inventory of Executive FunctionBehaviorRegulationIndex -0.016 0.944MetacognitionIndex -0.165 0.452GlobalExecutiveComposite -0.112 0.612FSIQ 0.036 0.870

*Correlationsignificantatthep<0.05level**Correlationsignificantatthep<0.01level

Table 5Correlationsbetweensocialcompetence(SCPQ–P)andFSIQ,Conners3–PLratings,SRSratings,andBRIEFratingsforNF1participants.


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Inrelationtothesecondaim,47.8%ofNF1childrenwereratedashavingsignificantlyelevated inattentionand/orhyperactivitysymptoms.Additionally,43.5%displayedelevatedlevelsofautisticsymptomatology and four children (17.4%) displayed severesymptomsata levelwhich is stronglyassociatedwithaclinicalASDdiagnosis. In total, 30.4%demonstrated clinically elevatedsymptoms of bothADHD andASD. The percentage of childrenfallingwithin the clinically significant range forADHDandASDsymptomsinthisstudywascomparabletotheproportionsfoundinprevious researchonNF1 [4,6,18,19,23].Again,however,it is importanttonotethatthere isoverlapbetweenthesocialandcognitiveimpairmentsseeninNF1andASD,andsothetrueprevalenceofASDinNF1maybelowerthantheliteraturewouldindicate[24].

Aspredicted(Hypothesis3),childrenwithNF1andnocomorbidADHD or ASD diagnosis were rated by their parents as havingsignificant social competence problems; group differences insocialcompetenceratingsbetweenNF1childrenandTDcontrolsremainedsignificantevenafterexcludingNF1participantswithacomorbidpsychologicaldiagnosis.However,ourhypothesisthatsocial competencewould be significantly related toADHD andASDsymptomatology(Hypothesis4)wasonlypartiallysupported.Contrarytopredictions,socialcompetencewasnotsignificantlyrelatedtoparent-ratedlevelsofinattentionorhyperactivityinourNF1 cohort, norwas social competence related to behaviouralindices commonly associated with ADHD, such as defiance/aggression and learning problems. These findings contradictthose of previous studies [8, 9],which identified childrenwithNF1 and comorbid ADHD and/or learning problems as thosemostat risk for socialproblems.Additionally,ADHD is stronglyassociated with social incompetence in children without NF1[53,54].Ourresultsaresomewhatsurprisingandmayrepresenta cohort effect in our relatively small sample. Further study ina larger sample of childrenwith NF1 is certainlywarranted toconfirmourpresentfindings.

Inkeepingwithexpectations(Hypothesis4),socialcompetencewassignificantlyassociatedwithoveralllevelsofASDsymptomatologyin children with NF1, such that individuals with higher ASDsymptomlevelsdisplayedloweroverallsocialcompetence.Therewere significant correlations between social competence andscoresontheSRSAutisticMannerismstreatmentsubscale(e.g.“hasrepetitiveoddbehaviourssuchashandflappingorrocking,”“has a restricted or unusually narrow range of interests”) andSocial Communication treatment subscale (e.g. “avoids eyecontactorhasunusualeyecontact”,“getsteaseda lot”) intheexpected direction. It is also interesting to note that a largeproportion of the NF1 group (43.5%) demonstrated significantdifficultieswithsocialmotivation,whichtapsintosociallyanxiousand avoidant behaviours (e.g. “is too tense in social settings”,“avoids starting social interactions with peers or adults”). Thissuggestsavulnerabilitytosymptomsofsocialanxietyinchildrenwith NF1 and supports previous research showing a potentialpredispositionforanxietydisordersinthispopulation[17].SocialMotivationratingswerefoundtobesignificantlyrelatedtosocialcompetence,suchthatchildrenexperiencing increasedanxiousoravoidantbehavioursalsodisplayedlowersocialcompetence.Furtherexplorationofsocialanxietyanditsrelationshiptosocial

functioning inNF1 iswarranted, as thismay be impacting notonlyontheabilitytoformandmaintainfriendships,butalsoonemotionalandbehaviouralfunctioningandoverallqualityoflifeinthispopulation.ThepatternofresultsobservedinthepresentstudycertainlysuggeststhatsomecombinationofautistictraitsandsocialanxietysymptomsmightbecontributingtothesocialcompetencedeficitsobservedinsomechildrenwithNF1.

The third aim of this study was to explore the relationshipsbetween social competence, FSIQ, and executive function inchildren with NF1. In keeping with expectations (Hypothesis5), social competence was not significantly related to generallevelsofintellectualfunctioningintheNF1group.However,ourhypothesis that lower social competence would be associatedwithhigherlevelsofdaytodayexecutivedysfunction(Hypothesis6)wasnotsupported.Whilegroupmeanswerenotsignificantlydifferentfromthosereportedinpublishednormativedata,overhalf(56.5%)ofthechildrenwithNF1inourcohortwereratedbytheirparentsasdemonstratingdifficultyataclinicallysignificantlevel in at least one executive domain, supporting previousresearch showing significant day to day executive dysfunctionin thispopulation[11].Previousstudieshaveshownsignificantrelationships between social deficits and executivedysfunctionintypicallydevelopingchildren[41,42],ASD[43,55],andothergeneticdisorders, including22q11deletion syndrome [56],butnoexistingstudyhasexplicitlyexploredtherelationshipbetweensocial competence and executive function in NF1. While thelack of relationships between functional executive behavioursand social competence are not clear, one possible explanationis that our study solely relied on parent report questionnairesof executive function,which onlymeasure children’s executiveabilities inthehomeenvironmentandsomaybe lesssensitivethanotherexecutivefunctionmeasures.Ofnote,apreviousstudyinvestigatingthecorrelationsbetweeninformantreportmeasuresofexecutivefunctionandneuropsychologicaltestperformanceinchildrenwithNF1foundinconsistentrelationshipsbetweenthesevariables, suggesting that these measures might tap differentconstructs[11].FutureresearchinvestigatingsocialcompetenceandexecutivefunctioninchildrenwithNF1shouldsupplementparent reports of executive functionwith additionalmeasures,including teacher report questionnaires and behaviouralassessment tools, such as the Behavioural Assessment of theDysexecutiveSyndromeinChildren(BADS-C)[57].

Study limitationsThere were several methodological limitations in the presentstudywhichmustbeconsidered.Firstly,asmentionedabove,thisstudyreliedsolelyonparentreportquestionnairesofsocialandbehavioural functioning. Previous research has demonstratedconsiderable variations between reports from differentinformants on social and behavioural rating instruments [58].Future research investigating social competence inNF1 shouldcorroborate parent ratings with information from additionalsources, including teachers, peers, and self-report, to limit theamountofpotentialbias.

Thepossibilityofresponsebiasmustalsobeconsidered.Ofthe30 setsof questionnaires sentout, only 23were returnedandit is possible that the parents of childrenwithmore comorbid

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symptomatology and/or greater social difficulties were thosemost likely to choose to participate in the present study.Nevertheless,thedescriptivestatisticsofthe23responderswereinkeepingwithexpectationsforchildrenwithNF1,andthesevennon-respondersdidnotdiffersignificantlyfromresponderswithrespecttosampledemographics.

Finally,itisimportanttonotethattheADHDandASDsymptomquestionnairesusedinthisstudywerescreeningtoolsonly.Nodiagnosticortreatmentdecisionscanbemadeonthesereportsalone, as all ratings require confirmation from independentsources. Although 47.8% of our NF1 cohort demonstratedsymptomsofADHDinthe“veryelevated”range,only21.7%ofthesechildrenhadaconfirmedADHDdiagnosis.Futureresearchinvestigating the relationship between social competence andcomorbid ADHD and ASD should aim to incorporate formalinformation regarding confirmed diagnostic status in a largersample to explore more rigorously the influence of thesevariables on day to day social functioning. This may include adiagnosticinterviewsuchastheScheduleforAffectiveDisordersandSchizophreniaforSchool-AgeChildren(K-SADS)[59].

Future researchFurtherresearchinalargersampleofchildrenwithNF1willbenecessarytoconfirmandextendthepresentfindings.ItisclearthatchildrenwithNF1demonstratesignificantsocialcompetenceproblems,however,thenatureoftherelationshipsbetweentheseproblems and comorbidADHDand/orASDdiagnoseswarrantsfurtherexploration.Studieswithlargersamplesizescouldfocusonsubgroupanalysesbasedonpsychologicalcomorbidities(e.g.NF1+ADHD,NF1+ASD,NF1+ADHD+ASDandNF1only) toinvestigateanyassociateddifferences in social competence.Asstatedpreviously,theinclusionofdiagnosticassessmenttoolsforADHDandASDwouldbeinformative,aswouldformalscreeningforsocialanxietysymptoms.Notably,whenexploringtheeffectof ASD on social competence, it would also be important tounderstand thepossiblemediatingeffectof socialanxiety.Thiscouldbeinvestigatedwithformalstatisticalanalyses ina largerNF1cohort.

There are many other variables which may be important incontributing to social competence problems in children withNF1whichwerenotexploredinthecurrentstudy.Forexample,childrenwithNF1 suffer from lowacademic achievement [16],cosmeticdisfiguration[60]andsignificantimpairmentinmultiplecognitive domains, including attention and language skills [4].Thesevariableshaveall been separatelyassociatedwith socialdysfunction in children with mild cognitive and behaviouraldisabilities [61] and certainly warrant further investigation inchildrenwithNF1.Previousresearchhasalsoidentifieddeficitsinsocialinformationprocessingandhigher-levelsocialcognitioninthosewithNF1[33,35]whicharelikelytocontributetoreducedsocial functioning. Elucidating the potential cause(s) of thesocialdifficultiesisanimportanttaskforfutureresearch,asthisinformationwillinformmoreindividualisedclinicalmanagementandinterventionrecommendationsforchildrenwithNF1.

Clinical implicationsThepresentfindingsindicateasignificantriskofsocialcompetence

problemsforchildrenwithNF1,evenintheabsenceofcomorbidADHD, reduced intellectual abilities or functional executivedifficulties. As such, thesefindings highlight the importanceofscreening for social competence problems as part of standardclinicalassessmentandmanagementprotocolsforchildrenwithNF1.Givenquestionnairessuchas theSocialCompetencewithPeersQuestionnaire (SCPQ) [44] are freely available toolswithsoundpsychometricpropertiesthatcanbecompletedinlessthanfiveminutes,incorporatingthemintotheclinicalassessmentofchildrenwithNF1ishighlyfeasible.Thequestionnaireisavailablein parent (SCPQ-P), teacher (SCPQ-T) and pupil (SCPQ-PU)versionswhichallcorrelatestronglyinneurotypicalchildren[44].

Inkeepingwithpreviousresearch[4,6,19,22,23],weidentifiedelevated levels of ADHD and/or ASD symptoms in a largeproportion of our NF1 cohort (including high levels of sociallyanxious behaviour). Higher levels of ASD symptomatology andsocially anxious behaviour were significantly associated withpoorer social competence in childrenwithNF1. Thesefindingsstrongly suggest the need for general psychological screeningin children with NF1, particularly those with reduced socialcompetence.WhileADHDscreeningmeasuressuchastheConners3ratingscales[49]areroutinelycompletedaspartoftheclinicalmanagementofchildrenwithNF1atCHW,thepresentfindingssuggest that children with reduced social competence shouldalsobescreenedforsocialanxietyandelevatedASDsymptoms.The Social Responsiveness Scale (SRS) [21]may be useful as ascreeningmeasureforASDinchildrenwithNF1withpoorsocialcompetence, providing information about specific problematicbehaviours and social skills deficits thatwill assist clinicians indesigningandimplementingappropriateinterventions.Notably,the SRS also includes a Social Motivation treatment subscalethat assesses socially anxious and avoidant behaviours [21].The Spence Children’s Anxiety Scale (SCAS) [62] could alsobe administered to children with NF1 and social competenceproblemsasamoregeneralscreenforanxietysymptoms.

ChildrenwithNF1whodisplaysocialcompetenceproblemsarelikelytorequireinterventionstargetedatformingandmaintainingfriendshipswiththeirpeers.Nopublishedstudiestodatehaveexplored the effectiveness of social intervention programs forchildren with NF1, however our present findings suggest thatitmaybesuitable totrial treatment interventionsdesignedforchildrenwith ASD in anNF1 cohort. In particular, interventionwith a focus on social motivation and the management ofanxiety surrounding social interactions may be beneficial.Nevertheless, thesignificantvariabilityobserved in theclinical,neuropsychologicalandsocialphenotypesofchildrenwithNF1indicates that their social competence problems could reflecta number of individual contributing factors and individualisedintervention programs targeting particular skill deficits orproblem behaviours may be necessary. Spence [63] advocatesamultimodalapproachtosocialskillstrainingforchildrenwithsocialcompetenceproblems,including:behaviouralskillstraining(e.g. modelling, role playing, feedback, and reinforcement);social perception skills training; instruction in self-regulationtechniques; social problem solving; and parent training. ThedevelopmentandimplementationoftheseprogramsforchildrenwithNF1willbeanimportanttaskforfutureresearch.


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ConclusionThe present findings indicate that children with NF1 are atsignificant risk of day to day social competence problems,especiallythosewhodisplayhighlevelsofautisticsymptomatologyandsociallyanxiousbehaviour.Nevertheless,socialcompetenceproblems inNF1occureven intheabsenceofcomorbidADHDand ASD and do not appear to be related to general levels ofintellectual functioning or functional executive abilities. Theseresults suggest a need to incorporate assessment, prevention,and intervention for social problems into the general clinicalmanagementofchildrenwithNF1,evenforthosechildrenwithrelatively normal neuropsychological profiles. Identifying thecontributing factorsofsocialcompetenceproblems inNF1and

designing appropriate intervention programswill be importantchallengesforfutureresearch.

AcknowledgementThe authors gratefully acknowledge Dr Naomi Sweller for herstatisticalexpertise.

FundingThisresearchreceivednospecificgrantfromanyfundingagency.

Competing InterestsTheauthorsdeclarethattheyhavenocompetinginterests.

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