Attention Deficit Predicts Intellectual Functioning in Children with Neurofibromatosis Type 1

Heimgärtner, Magdalena; Granström, Sofia; Haas-Lude, Karin; Leark, Robert A.; Mautner, Victor‐Felix; Lidzba, Karen

doi:10.1155/2019/9493837

Cited by 13 publications

(13 citation statements)

References 35 publications

(55 reference statements)

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“…It has been estimated that up to 50% of all NF1 patients present with attention deficit hyperactivity disorder (ADHD) [reviewed by 94 ]. NF1 patients with ADHD score lower in intelligence tests than healthy (sibling) controls and exhibit lower IQ scores than NF1 patients without ADHD [ 90 , 94 – 98 ]. In patients with NF1, attention deficits are a specific additional risk factor for suboptimal intellectual performance [ 99 ].…”

Section: Resultsmentioning

confidence: 99%

“…These six patients are not among the 17 NF1 microdeletion patients analysed by Mautner et al [18] included in this 94]. NF1 patients with ADHD score lower in intelligence tests than healthy (sibling) controls and exhibit lower IQ scores than NF1 patients without ADHD [90,[94][95][96][97][98]. In patients with NF1, attention deficits are a specific additional risk factor for suboptimal intellectual performance [99].…”

Section: Developmental Delaymentioning

confidence: 92%

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Clinical characterization of children and adolescents with NF1 microdeletions

et al. 2020

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Purpose An estimated 5–11% of patients with neurofibromatosis type 1 (NF1) harbour NF1 microdeletions encompassing the NF1 gene and its flanking regions. The purpose of this study was to evaluate the clinical phenotype in children and adolescents with NF1 microdeletions. Methods We retrospectively analysed 30 children and adolescents with NF1 microdeletions pertaining to externally visible neurofibromas. The internal tumour load was determined by volumetry of whole-body magnetic resonance imaging (MRI) in 20 children and adolescents with NF1 microdeletions. Furthermore, the prevalence of global developmental delay, autism spectrum disorder and attention deficit hyperactivity disorder (ADHD) were evaluated. Results Children and adolescents with NF1 microdeletions had significantly more often cutaneous, subcutaneous and externally visible plexiform neurofibromas than age-matched patients with intragenic NF1 mutations. Internal neurofibromas were detected in all 20 children and adolescents with NF1 microdeletions analysed by whole-body MRI. By contrast, only 17 (61%) of 28 age-matched NF1 patients without microdeletions had internal tumours. The total internal tumour load was significantly higher in NF1 microdeletion patients than in NF1 patients without microdeletions. Global developmental delay was observed in 28 (93%) of 30 children with NF1 microdeletions investigated. The mean full-scale intelligence quotient in our patient group was 77.7 which is significantly lower than that of patients with intragenic NF1 mutations. ADHD was diagnosed in 15 (88%) of 17 children and adolescents with NF1 microdeletion. Furthermore, 17 (71%) of the 24 patients investigated had T-scores ≥ 60 up to 75, indicative of mild to moderate autistic symptoms, which are consequently significantly more frequent in patients with NF1 microdeletions than in the general NF1 population. Also, the mean total T-score was significantly higher in patients with NF1 microdeletions than in the general NF1 population. Conclusion Our findings indicate that already at a very young age, NF1 microdeletions patients frequently exhibit a severe disease manifestation which requires specialized long-term clinical care.

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Section: Resultsmentioning

confidence: 99%

Section: Developmental Delaymentioning

confidence: 92%

Clinical characterization of children and adolescents with NF1 microdeletions

et al. 2020

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“…Neurofibromatoza tip 1 izaziva i razne kognitivne disfunkcije. Osim neznatno smanjenog količnika inteligencije, sniženog akademskog postignuća, jezičkih problema, deficita na planu pamćenja, deficita egzekutivnih funkcija i vizuospacijalnih sposobnosti, najistaknutiji su problemi sa pažnjom [4] . su prepoznatljivi još u predškolskom periodu.…”

Section: Uvodunclassified

“…Globalno intelektualno funkcionisanje je ispod proseka u odnosu na opštu populaciju [14,15] . NF 1 sama po sebi ne vodi globalnom sniženju intelektualnih kapaciteta, ali deficit pažnje koji je često prisutan, dodatni je faktor rizika za snižene performanse pri proceni inteligencije [4] . Iako je ta stopa dva do tri puta veća nego prisutnost intelektualne ometenosti u opštoj populaciji i dalje je relativno niska ukoliko se poredi sa drugim neurogenetskim poremećajima Engrami • vol.…”

Section: Kognitivni Profilunclassified

Cognitive phenotype in neurofibromatosis type 1

Todorović¹,

Pavlović²,

Zelić³

et al. 2020

Engrami

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Neurofibromatoses are a set of different genetic disorders that have a common characteristic of the appearance of nervous system tumors. There are three forms of the disease, of which type 1 neurofibromatosis (NF 1) is the most common. NF 1 is an inherited autosomal-dominant disease, with a high rate of new mutations. In addition to the many physical manifestations and complications that occur in persons with NF 1, there are also numerous cognitive difficulties, including lower general intellectual functioning, learning difficulties, but also problems in attention, visual abilities, executive functions, and speech. Attention disorders are up to three times more common in people with NF 1, while learning disabilities are present in more than half of these subjects. Disturbances in the field of visuospatial perception are recognisable even in the preschool period. About 80% of children with NF1 exhibit various speech and language disorders: slow early speech development, slower vocabulary enrichment, syntactic, semantic and phonological speech disorders. Disruption of executive functions will manifest itself in the areas of working memory, organisation, planning / problem solving. This will reflect as the underperformance in academic achievement. Nearly one-third of these persons have emotional and social problems.

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“…Ovo stresno vreme, koje često i za mnoge postaje traumatično, o čemu naročito pišu autori iz SAD i Izraela, i koje se i u našoj sredini često tako ispoljava, suočilo nas je, na ličnom i kolektivnom nivou, sa krizom kao šansom i izazovom [4] za nastanak i produbljivanje svesti o bazičnim vrednostima u životu, za nastanak i produbljivanje osećanja zahvalnosti za bazične stvari koje u životu imamo, ali i za analitičku proradu ranijih i najranijih ličnih i kolektivnih trauma koje je sadašnja trauma izvukla na površinu i omogućila da im priđemo. Posebnu, važnu kategoriju čine pacijenti sa istorijom traumatičnih gubitaka.…”

Section: žIvot U Senci Pandemije / Smrtiunclassified

On psychoanalysis during the COVID-19 pandemic

Rakić-Glišić¹

2020

Engrami

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The COVID-19 pandemic is becoming unfortunately traumatic for many, which is especially what authors from the USA and Israel are writing about, and which often manifests itself in our country, faced us on a personal and collective level with the crisis as a chance and a challenge for the emergence and deepening of awareness of basic values in life, for the emergence and deepening of a sense of gratitude for the basic things we have in life, but also for the analytical processing of earlier and the earliest personal and collective traumas that the actual trauma brought to the surface and allowed us to approach them. Commitment to working with patients means keeping our mental world and the mental world of our patients working together all the time, even before, after and during turbulences. That work involves discovering the patient's life force because, especially in a critical, crisis, stressful age, the role of creativity is essential. The psychotherapist's creativity also changes under the influence of the pandemic, as does his / her ability to trigger his / her own anxieties and fear of death. Therefore now, during this crisis, we are giving to the unconscious its place more than ever. It is important that we all the time maintain and nurture listening to the unconscious with our patients. This is a basic principle in the face of trauma, and the current pandemic provides a chance to relive all the trauma.

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Attention Deficit Predicts Intellectual Functioning in Children with Neurofibromatosis Type 1

Cited by 13 publications

References 35 publications

Clinical characterization of children and adolescents with NF1 microdeletions

Clinical characterization of children and adolescents with NF1 microdeletions

Cognitive phenotype in neurofibromatosis type 1

On psychoanalysis during the COVID-19 pandemic

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