SHORT COMMUNICATION
291 ActaDV ActaDV
Advances in dermatology and venereology Acta Dermato-Venereologica
Post-traumatic Stress Disorder in Patients and Relatives Following a Diagnosis of De novo Neurofibromatosis Type 1
Johanna HUGUEN 1, Séverine AUDEBERT-BELLANGER 2, Emilie BRENAUT 1, Laurent MISERY 1 and Claire ABASQ-THOMAS 1 *
1
Department of Dermatology, and 2 Department of Genetics, University Hospital Brest, CHU Morvan Brest, 2 avenue Foch, FR-29200 Brest, France. * E-mail: claire. abasq @ chu-brest. fr Accepted Oct 2, 2017; Epub ahead of print Oct 3, 2017
Neurofibromatosis type 1( NF1), or von Recklinghausen’ s disease, is an autosomal dominant, multisystem disorder that affects approximately 1 in 3,500 people. Up to 50 % of cases of NF1 arise as a result of spontaneous mutations( 1, 2). A diagnosis of NF1 is extremely difficult to communicate to patients and their parents because of the clinical variability, unpredictable evolution and uncertain prognosis of the disease. To our knowledge, only one study, published in 2000( 3), has evaluated the impact of conveying a diagnosis of NF1 to parents of an affected child.
The aim of the present study was to explore posttraumatic stress disorder( PTSD) in patients and the parents of children with NF1 following a diagnosis of de novo NF1.
PATIENTS AND METHODS
Patients were recruited at the Neurofibromatosis Competence Center, Brest, France. Eligibility was based on the National Institutes of Health( NIH) criteria( 1). Exclusion criteria were: familial forms of NF1 or the inability to complete the questionnaire because of cognitive or physical impairment. Familial forms were excluded because family’ s background, knowledge, and experience are not the same and this could impact the final results.
A 5-page survey was posted to all eligible patients. Time to complete the survey was approximately 6 min. Questionnaire items were: demographic information, announcement circumstances, open-ended questions on feelings after this announcement( anxiety, fear of complications), and access to further information about the disease. The final question involved the Impact of Event Scale – Revised( IES-R), as approved in French( 4). The IES-R is a 22-item self-reporting instrument that assesses 3 symptoms of PTSD: intrusion, avoidance and hyper-arousal( 5). The cut-off score for diagnosis of PTSD is 33 points; a score > 33 represents a diagnosis of PTSD. The study protocol was approved by the University Hospital’ s ethics committee.
RESULTS
This study was carried out in the Brest Neurofibromatosis Competence Center, which opened in 2013. The files of 122 patients with NF1 were extracted from the centre database.
The questionnaire was sent to 53 eligible patients with the de novo NF1. Thirty-one questionnaires were returned( response rate 58.5 %), comprising 12 adult patients and 19 parents of a child with NF1( Fig. S1 1).
Mean patient age was 24.7( range 2 – 77) years. There were 16 males and 15 females( Fig. S2 1, Table SI 1). For the children with NF1, the questionnaires were always completed by the children’ s mothers( 19 / 19).
The IES-R score was ≥ 33 in 14 cases, thus 45.2 % of the patients or family members had PTSD after NF1 disclosure. Of these 14 people, 12 had IES scores > 37, thus 38.7 % of the patients or family members had severe PTSD( 96.8 % response rate). Detailed results are shown in Table SII 1.
Fig. 1 shows anxiety and fear complications after diagnosis of NF1. In adult patients, genetic transmission was cited as a distress 3 times( in 25 % of adult patients)( 91.7 % response rate). The parents of an affected child reported other feelings: uncertainty was cited 5 times( 26.3 % of families), learning disabilities, physical deformations, and genetic transmission were each cited twice( 10.5 %)( 89.5 % response rate).
Various complications were dreaded: adult patients mostly feared physical deformation( 3 times, 25 % of adult patients)( 83.3 % response rate). For parents, physical deformations were mentioned 6 times( 31.6 %), learning disabilities, visual disorders and death were each mentioned 5 times( 26.3 %)( 94.7 % response rate).
Twenty-four patients( 77.4 %) searched for more information on the Internet( 74 % response rate).
1 https:// www. medicaljournals. se / acta / content / abstract / 10.2340 / 00015555-2813
A
Percentage
B
Percentage
35 30
25 20 15 10 5 0
35 30 25 20 15 10 5 0
Adult patients
Parents of an affected child
Fig. 1. Frequency of A) anxiety and( B) feared complications expressed after the first consultation.
This is an open access article under the CC BY-NC license. www. medicaljournals. se / acta Journal Compilation © 2018 Acta Dermato-Venereologica. doi: 10.2340 / 00015555-2813 Acta Derm Venereol 2018; 98: 291 – 293