Social functioning patterns vary across measures in children with neurofibromatosis type 1 (NF1; Glad et al., 2021) with broad psychosocial screening measures having shown no impairment (Klein-Tasman et al., 2014; Martin et al., 2012; Sangster et al., 2011) while a more specific social functioning measure indicated poorer social skills (Barton & North, 2004; Huijbregts & de Sonneville, 2011; Loitfelder et al., 2015). The current aims were to characterize caregiver-reported social skills using three different measures and determine which measure appears to best capture social difficulties for young children with NF1.

Fifty children with NF1 (31 males; M=3.96, SD=1.05) and 20 unaffected siblings (11 males; M=4.34, SD=0.88) in early childhood (ages 3-6) were rated by a caregiver on one social functioning measure (the Social Skills scale on the Social Skills Rating System (SSRS)) and two broader functioning measures that include assessment of social functioning (the Social Skills scale on the Behavior Assessment System for Children-Second Edition (BASC-2), Social Interaction and Communication domain on the Scales of Independent Behavior-Revised (SIB-R)).

For children with NF1, the SSRS mean standard score was significantly lower than the BASC-2 and SIB-R (f=-5.11, p<.001; f=-4.63, p<.001) while there was no significant difference between the BASC-2 and SIB-R. No significant differences emerged between measures for unaffected siblings. No significant group differences in mean standard score were found for the SSRS, BASC-2 or SIB-R. Fisher’s exact tests revealed the NF1 group had significantly more frequent difficulties than unaffected siblings on the BASC-2 (p=.017) but not on the SSRS or SIB-R. For both groups, Cochran’s Q tests determined a significant difference in the proportion of identified social difficulties across measures (NF1: X2(2)=16.33, p<.001; Siblings: X2(2)=9.25, p=.01). Follow up McNemar’s tests demonstrated significantly more difficulties reported on the SSRS compared to the BASC-2 for both groups (NF1: p<.001; Siblings: p=.016). Significantly more frequent difficulties were also reported on the SSRS compared to the SIB-R for the NF1 group (p=.002) but not for the unaffected siblings group. No difference in the frequency of difficulties was evident between the BASC-2 and SIB-R for either group.

Social skills difficulties appear to be best captured using the SSRS in young children, particularly for children with NF1 as this measure resulted in the lowest mean score and the greatest frequency of difficulties observed within the NF1 group. However, it is notable that group differences in comparison to unaffected siblings were not observed in mean score or frequency of difficulties, such that these young children with NF1 are not showing marked social challenges but rather, social difficulties may be mild when present at this age. Nevertheless, using a measure that specifically targets social functioning, rather than a measure where social functioning is merely a component of a broad measure, appears beneficial to capturing social difficulty. Using measures that best capture social difficulties will contribute to early identification and assessment of intervention effectiveness. Further work with additional age ranges and longitudinal trajectory is needed.

The purpose of the present study is to characterize the trajectory of internalizing and externalizing behaviors in children with NF1 longitudinally from the early childhood period to the school age period on a broad psychosocial norm-referenced measure using linear mixed model growth curves.

Children with NF1 (n=28) were seen at least once between the ages of 3-8 years old and then again between the ages of 9-13 years old. Parents completed the Behavior Assessment System for Children (BASC) Second Edition; the version of the BASC administered depended on age (i.e., preschool form or child form). Linear mixed model growth curve analyses were used to examine the developmental trajectories of children with NF1 on the following scales, which were selected due to findings in the literature: Externalizing Problems, Internalizing Problems, Hyperactivity, Anxiety, Depression, Attention, and Executive Function. T-scores (M=50, SD=10) were used. Higher scores indicate more challenges.

By using loess lines to qualitatively describe the patterns of ratings across time, it is evident that most scales (Externalizing Problems, Internalizing Problems, Hyperactivity, Attention Problems, Executive Function) demonstrated curvilinear trajectory patterns, with scores peaking in the 8-10-year-old range, then decreasing again. However, there was no statistically significant effect of age on any of the scales. Notably, trajectories largely included standard scores within the normative range (T-scores between 45-55).

Overall, the models also suggest that most children with NF1 are within the average range of functioning on all scales examined across the childhood period. Furthermore, with the exception of the Depression and Anxiety scales, ratings tend to peak around the 8-10-year period, and then decrease into early adolescence. Thus, when working with patients with NF1, it may be the case that clinicians note relative increases in challenges across these domains in late childhood, though these challenges may decrease over time during this age range. Linear growth curve modeling identified that the developmental trajectories of internalizing and externalizing behaviors of children with NF1, as rated by parents, remain stable across the childhood period. Importantly, low power may have contributed to the lack of observed age effects. Longitudinal research would be beneficial to capture patterns that may emerge in adolescence or adulthood.

Neurofibromatosis type 1 (NF1) is a neurogenetic disorder associated with increased risk of neuropsychological challenges. While research has evidenced associations between environmental factors and neurocognitive development, few studies have examined the role that socioeconomic status (SES) plays on neuropsychological development in NF1. The aim of this study is to examine the relationship between community SES and cognitive/psychosocial outcomes in a neuropsychology clinic sample of pediatric NF1 patients.

The sample consisted of 47 youth with NF1 (M age=11.91, SD=3.69). The sample was 51.1% female, 72.3% White, 19.1% Black/African American, and 4.3% Hispanic. All participants had completed neuropsychological assessments for clinical purposes at an outpatient clinic in an urban, midwestern medical center. Data from neuropsychological measures and demographic information were pulled from records and entered into a de-identified dataset. The Wechsler Intelligence Scales, California Verbal Learning Test (CVLT), Woodcock Johnson Test of Achievement, and parent- and teacher-report versions of the Behavior Assessment System for Children (BASC) and the Behavior Rating Inventory of Executive Function (BRIEF) were used to examine broad neuropsychological functioning. The Area Deprivation Index (ADI) measures SES at the community level, as opposed to the individual level. It is composed of 17 factors related to education, poverty, employment, and housing. This information is used to assign index scores by zip code, with scores on a scale of 110 and 10 indicating the highest level of socioeconomic disadvantage. Mean ADI for this sample was 4.02 (SD=1.93).

Mean neurocognitive scores were consistently in the low average to average range. Parent and teacher scores on the BASC were in the average range. Mean scores on the BRIEF indicated Global Executive Composite scores in the mildly and moderately elevated range for parents and teachers, respectively. Correlational analyses revealed significant associations between ADI scores and immediate recall performance on the CVLT (Trials 1-5; r=.37; p=.03) and the BRIEF Planning and Organization subscale (r=.35; p=.02). Both remained significant after controlling for FSIQ (CVLT: rFSIQ=.49, p=.003; BRIEF: rFSIQ=.38; p=.02).

Mean cognitive scores for the sample are consistent with existing literature demonstrating that individuals with NF1 are at risk of reduced functioning in several domains. Sample mean ADI of 4 indicates a relatively low level of disadvantage in this sample., ADI was significantly associated with two variables, and greater deprivation was associated with better list learning performance. This suggests that the role of community SES is likely nuanced in how it impacts neurocognitive development. Results provide mild evidence of an association between ADI and learning and planning/organization. However, limitations to the current study, including a small sample size, and the retrospective nature, likely limits a more detailed understanding of the true relationship between community resources and cognitive and psychosocial outcomes among children with NF1. Future research comparing larger low and high ADI samples is necessary to fully examine the relationship between these factors. With better understanding of how community SES may limit or support neurocognitive and psychological growth in this population, more effective interventions can be designed for this group whose members are at notable risk for cognitive and psychological challenges.

A 9-year-old girl under pediatric follow-up since the age of 4 years after diagnosis of neurofibromatosis type 1

To present a case of neurofibromatosis and ADHD comorbidity to raise awareness of the importance of screening for neurodevelopmental disorders.

Case report and literature review

The patient had an adequate control and follow-up of the disorder with periodic check-ups and magnetic resonance imaging during her follow-up. She was referred due to symptoms of inattention with failure to perform exams and impulsivity in interpersonal relationships, affecting her social functioning. In addition, the patient presented simple motor tics of eye contraction and shoulder elevation. The patient was diagnosed with attention deficit hyperactivity disorder together with tic disorder. She was treated with stimulant medication with worsening of tics and marked hyporexia. Therefore, medication with guanfacine was started up to 4 mg per day, adjusted by weight. With this dose there was a control of the tics, with improvement of the symptoms of inattention and impulsivity. In different spheres an improvement in their functionality was observed, with improvement in mood, self-esteem and academic performance.

Neurofibromatosis type 1 is a rare monogenic disorder with a varied presentation (ophthalmologic, dermatologic and predisposition to tumor development). Patientshave been shown to present with symptoms of inattention and executive function impairment, along with other neurodevelopmental disorders such as autism spectrum disorders, learning disabilities or intellectual disability. The literature shows that up to 60% of them has ADHD criteria.

No significant relationships.

This paper discusses clinical features and management aspects of an extremely rare entity, neurofibroma of the external nose.

Database searches were performed using PubMed, Embase and Google Scholar to identify previously published articles.

Twelve articles comprising 13 patients with neurofibroma of the external nose were included. The mean age of presentation was 31 years. Sixty-nine per cent of patients were diagnosed at final histopathology. External approach rhinoplasty was performed in 76.9 per cent of patients, while the intranasal approach was used in 15.3 per cent of patients. There was a 15.3 per cent association with neurofibromatosis type 1. Recurrence was noted in 23 per cent of patients.

It may be challenging to diagnose this entity clinically because of its rarity and striking features on histopathology. Neurofibroma of the external nose should be kept in mind as a differential diagnosis for any soft progressive swelling over the nose. Management requires complete excision, with cosmesis and restoration of functions.

Neurofibromatosis type 2 (NF2) is a rare disorder associated with significant morbidity such as hearing loss that can lead to many psychiatric disorders.

Describe the psychiatric symptoms associated to NF2.

We report the case of a patient admitted to the locked unit of the psychiatric ward for agitation and persecutory delusion and diagnosed with NF2. The data was collected from the patient’s medical file. A review of the literature was performed by selecting articles from PubMed using ‘Psychosis acoustic neuromas’ and ‘Psychosis neurofibromatosis 2’ as key words.

This is the case of a 21-year-old patient who was admitted for behavioral disorders. Our patient had a medical history of a one-sided deafness treated with a hearing prosthesis. He was also followed irregularly by a free-lance psychiatrist. The start of trouble dated back to 3 years marked by behavioral disorders such as fugue, agitation, irritability and sleep disorder. The symptoms worsen in the last 3 months with appearance of hostility and delusion of persecution towards his mother. The patient declines to eat the food that his mother cooked for him and threatened her with a knife. The clinical overview includes delirium, clastic agitation strikes, emotional lability, cerebral ataxia and conjunctival hyperemia. Brain scanner showed an association of bilateral acoustic neuromas, cavernous and intraventricular meningioma. These clinical and radiological signs met the diagnosis for NF2 according to the consensus conference of the National Institute of Health in Bethesda (USA 1988).

The psychiatric symptoms reported in acoustic neuroma patients are usually described as transient.

Parapharyngeal space tumours are uncommon and represent 0.5–1 per cent of all head and neck neoplasms; 20–30 per cent of these are malignant. Malignant peripheral nerve sheath tumours are rare and mostly encountered in patients with neurofibromatosis type 1. Only four cases of parapharyngeal space tumours have been reported in the English language in patients without neurofibromatosis type 1.

We report the case of a 64-year-old man with no stigmata of neurofibromatosis type 1, in whom a mass in the left pre-styloid region of the parapharyngeal space was an incidental finding following magnetic resonance imaging for investigation of cervical spine problems. The mass was consequently removed using a transcervical approach. A histological review revealed a low-grade malignant peripheral nerve sheath tumour.

We consider the pathophysiology of this highly malignant tumour as well as the challenging anatomy of the parapharyngeal space and the surgical and other therapeutic modalities utilised to treat this condition.