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| Patient 1 | Patient 2 | Patient 3 | Patient 4 |
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Sex, age | Male, 12 years | Male, 13 years | Male, 15 years | Female, 8 years |
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Main reasons for referral | Increasing puberty-onset aggressiveness | ASD assessment | Psychiatric assessment in the context of sexual assault | Suspicion of ADHD |
Suspicion of ADHD | Suspicion of ADHD | Outpatient unit | Social problems (foster care) |
Inpatient unit | Outpatient unit | Outpatient unit |
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NF1 diagnosis | Familial NF1 (including intellectual disability) | Sporadic NF1 | Familial NF1 | Familial NF1 |
Additional genetic research was negative: karyotype, x fragile |
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NF1 complications | Dystrophic thoracic scoliosis | Sphenoid bone dysplasia | Bilateral optic pathway tumor, remission | Optic pathway tumor, remission |
Sphenoid bone dysplasia | Orbicular-facial plexiform neurofibroma (surgically removed) | Precocious puberty |
Labile renovascular hypertension | UBOs: basal ganglia, cerebellum | Epilepsy |
Intermittent claudication | UBOs: left pallidum, white matter |
Several complicated surgical interventions/hospitalisations |
Absence of pheocromocytoma or precocious puberty |
UBOs: bilateral temporal; right lentiform nucleus; cerebellum/protuberance |
Blindness |
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Developmental delay (early history) | Vineland (age 4): developmental delays ranging from 7–39 months | Hypoxia at birth | ?? (family poorly informative) | Prematurity |
(Repeated gastroenteritis during childhood) | (Repeated gastroenteritis during childhood) | PEP-R (age 3): Average developmental delay 11–13 months |
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Cognitive assessment | TERMAN–MERRILL | PEP-3: mild intellectual disability | Assessment not available | BRUNET-LEZINE (age 3): Developmental delays ranging from 8–14 months |
Moderate intellectual disability | Divided attention TEA-Ch: −2.6SD |
Unimodal attention TEA-Ch −2.6SD |
Language EXALANG: delays in all domains (oral/written) (average: −1.7SD) |
Flexibility NEPSY-II: −1.4SD |
Working memory NEPSY-II: −1.4SD |
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ASD assessment | CARS (age 4) = 30.5 (mild autism) | Clinical evaluation: repetitive behaviors and perseverant thoughts | No clinical suspicion | ADOS |
ADI-R: stereotypies = 9 (threshold 3) | Deficits in social cognition/pragmatics: −1.3SD EMOTION COMPREHENSION TEST | Communication domain = 6 (threshold 4) |
Communication domain = 14 (threshold 8) | Social interaction = 14 (threshold 7) |
Other: anxiety |
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Psychiatric diagnosis | Moderate intellectual disability | Mild intellectual disability | Mild intellectual disability | Moderate intellectual disability |
Autism | Autism | Autism |
Dyspraxia | Dyspraxia | Dyspraxia |
NF1 related stress (comorbidities) | ADHD-hyperkinetic type | NF1 related stress (comorbidities) |
No criteria for ADHD | ADHD-hyperkinetic type CONNERS; clinical assessment |
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Medication | Aripiprazole | Methylphenidate | None | Levetiracetam |
Melatonin | Melatonin | Enantone |
Labetalol | Methylphenidate |
Clonidine | Risperidone |
Melatonin |
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Nonpharmacological treatment | Full time school for disabled adolescents, including remediation to improve attention, speech, motricity | Full time school for autistic adolescents | Full time school for disabled adolescents | Full time school for disabled children, including remediation to improve attention, speech, motricity. |
Regular follow-up | Adapted school activities, including remediation to improve attention | Regular psychiatric follow up | Foster family |
Regular multidisciplinary discussion | Speech remediation in the past |
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Outcome | Clinical improvement | Stable | Improvement | Improvement (less than expected due to social difficulties) |
Balancing day-to-day life with the ongoing co-morbidities of NF1 is a challenge to him and his family | Balancing day-to-day life with the ongoing co-morbidities of NF1 is a challenge to her |
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