Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach

Table 2

Clinical profile of NF1 patients with subnormal IQ.

	Patient 5	Patient 6	Patient 7	Patient 8	Patient 9	Patient 10	Patient 11
Sex, age	Male, 10 years	Male, 8 years	Male, 8 years	Male, 9 years	Male, 15 years	Male, 7 years	Male, 12 years
Main reason for referral	Learning difficulties	Learning difficulties	Learning difficulties	Intermittent explosive behaviour; ADHD	Confirmation of ASD (ADOS-ADI-R)	Suspicion of ADHD	Mood disorder
	Anxiety symptoms	Behavioural difficulties	Hyperactivity sleep; family related issues	NF1 complications: Precocious puberty; nondysplastic scoliosis; UBOs: cerebellum, globus pallidus	Emotional lability	NF1 related stress	Learning difficulties
	Social difficulties
	Outpatient unit	Outpatient unit	Outpatient unit	Outpatient unit	Outpatient unit	Outpatient unit	Outpatient unit
NF1 diagnosis	Familial NF1	Familial NF1	Sporadic NF1	Sporadic NF1	Sporadic NF1	Sporadic NF1	Legius SD
Developmental delay	Minor (graphic abilities)	No	Minor (global motor)	Walking unstable at 21 months	???	No	Not reported
	Repeated otitis		Prematurity	Speech delay (Repeated otitis)
Cognitive assessment WISC-IV	Verbal: 92; performance: 121; working memory: 97; speed: 88	Verbal: 86; performance: 77; working memory: 73; speed: 71	Verbal: 92; performance: 94; working memory: 76; speed: 78	Verbal: 98; performance: 65; working memory: 82; speed: 83	Verbal: 86; performance: 73; working memory: 109; speed: 100	Verbal: 92; performance: 109; working memory: 91; speed: 103	Verbal: 94; performance: 90; working memory: 73; speed: 66
	Heterogeneous	Heterogeneous	Heterogeneous	Heterogeneous	Heterogeneous	Heterogeneous	Heterogeneous
Attention and executive functions	Divided attention ^TEA-Ch: −2SD	Divided attention ^TEA-Ch: −1.4SD	Divided attention ^TEA-Ch: Normal	Divided attention ^TEA-Ch: −0.5SD		Divided attention ^TEA-Ch: +0.7SD
	Unimodal attention ^TEA-Ch: Normal	Unimodal attention ^TEA-Ch: −1.4SD	Unimodal attention ^TEA-Ch: Normal		Unimodal attention ^TEA-Ch: −0.7SD	Unimodal attention: ^TEA-Ch +0.3SD	Unimodal attention ^TEA-Ch: −0.7SD
		Sustained attention ^TEA-Ch: −1.7SD
		Attention control ^TEA-Ch: -2.2SD	Attention control ^TEA-Ch: +0.7SD
		Inhibition ^TEA-Ch: −2SD				Inhibition ^TEA-Ch: +1SD
	Flexibility ^NEPSY-II: −0.1SD	Flexibility ^NEPSY-II: −1.5SD	Flexibility ^NEPSY-II: −0.5SD	Flexibility ^NEPSY-II: −1.5SD	Flexibility ^NEPSY-II: −1.4SD	Flexibility ^NEPSY-II: −0.1SD	Flexibility ^NEPSY-II: −0.2SD
Memory	Short-term ^NEPSY-II: −0.1SD	Short-term ^NEPSY-II: −1.2SD	Short-term: −1.6SD		Short-term ^NEPSY-II: −0.3SD	Short-term ^NEPSY-II: −0.7SD	Short-term ^NEPSY-II: −0.3SD
	Episodic^REY: −0.3SD	Episodic^REY: +0.5SD				Episodic^REY: +0.4SD	Episodic^REY: −3SD
Language assessment EXALANG	Oral receptive: -0.7SD	Oral receptive: −1.5SD	Oral expressive: +1.4SD	Normal	Normal	Normal	Oral lexicon: −1.3SD
	Oral expressive: −0.5SD	Oral expressive: −2SD	Oral lexicon: −0.5SD
	Oral lexicon: +0.7SD	Oral lexicon: −1.2SD
	Written receptive: −2.6SD	Written expressive: −1.7SD	Written receptive: +1.4S				Written expressive: −2.6
	Written expressive: −2.9SD		Written expressive: −0.5SD
	Spelling: −2.6SD
Motricity	Visuo-construction^REY: +0.5SD	Visuo-construction^REY: Normal	Visuo-construction^REY: −0.7SD	Visuo-construction^REY: −3SD	Visuo-construction^REY: −0.3SD	Visuo-construction^REY: +0.2SD	Visuo-construction^REY: −0.7SD
	Visuo-spatial ^NEPSY-II: +0.5SD	Visuo-spatial ^NEPSY-II: −0.6SD	Visuo-spatial ^NEPSY-II: −0.3SD	Visuo-spatial ^NEPSY-II: −0.1SD	Visuo-spatial ^NEPSY-II: −0.8SD	Visuo-spatial ^NEPSY-II: +0.3SD	Visuo-spatial ^NEPSY-II: −0.8SD
	Graphomotor skill^BHK: −2.3SD	Graphomotor skill^BHK: −2SD	Graphomotor skill^BHK: −2SD	Graphomotor skill^BHK: −2SD	Graphomotor skill^BHK: +1.4SD	Graphomotor skill^BHK: +0.4SD	Graphomotor skill ^BHK: −0.3SD
Socio-cognition/pragmatic	−0.7SD	−0.3SD			−2.2SD	−1SD	Normal
Psychiatric Diagnosis	ADHD-inattentive type	Borderline intelligence	Anxious disorder	Borderline intelligence	ASD (Asperger)	Anxiety disorder	Mood disorder
	Dyslexia	ADHD-impulsive type	Motor (graphic) delay	ADHD, ODD	Dysexecutive profile		Attachment disorder
	Pragmatic communication disorder	Dysexecutive profile		Visual-Spatial Dyspraxia	Dyspraxia		Written language difficulties
		At risk for dyslexia		Dysgraphia			NF1 related stress
Medication	Methylphenidate	Methylphenidate (not well tolerated)	Melatonin	Methylphenidate	Aripiprazole	None	Quetiapine
				Triptorelin Acetate
Nonpharmacological treatment	Specific school adaptations	Specific school adaptations		Specific school adaptations	Specific school adaptations
	Speech and reading therapy	Speech and reading therapy		Speech and reading therapy (past)	Language and motor remediation in the past		Speech and reading therapy
	Motor skills remediation	Motor skills remediation	Motor skills remediation	Motor skills remediation	Social strategies group
			Psychotherapy	Psychodrama therapy		Psychotherapy	Psychiatric follow-up
Outcome	Improvement	Improvement	Stable	Improvement	Stable	Stable	Stable

ADHD, attention deficit hyperactivity disorder; ADI-R, autism diagnostic interview-Revised [15]; ADOS, autism diagnostic observation schedule [16]; ASD, autism spectrum disorder; BHK, concise evaluation scale for children handwriting [17]; EMOTION COMPREHENSION TEST, Test of emotion comprehension [27]; EXALANG, language evaluation for children 8–11 years [21]; NEPSY-II, Neuropsychological test for children [22]; NF1, Neurofibromatosis type 1; ODD, oppositional defiant disorder; TEA-Ch, test of everyday attention for children [24]; REY, Rey’s complex figure test [25]; UBOs, unidentified bright objects]; WISC IV, the Wechsler intelligence scale for children [29].