Search Results - "Van Eeghen, A. M."

Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents by Van Remmerden, M. C., Hoogland, L., Mous, S. E., Dierckx, B., Coesmans, M., Moll, H. A., Lubbers, K., Lincken, C. R., Van Eeghen, A. M.

“…Little is known about care needs of young adults with Fragile X Syndrome (FXS). Patient-driven information is needed to improve understanding and support of…”
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Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials by Müller, A R, den Hollander, B, van de Ven, P M, Roes, K C B, Geertjens, L, Bruining, H, van Karnebeek, C D M, Jansen, F E, de Wit, M C Y, Ten Hoopen, L W, Rietman, A B, Dierckx, B, Wijburg, F A, Boot, E, Brands, M M G, van Eeghen, A M

“…Many rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments,…”
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Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials by Müller, A. R, Zinkstok, J. R, Rommelse, N. N. J, van de Ven, P. M, Roes, K. C. B, Wijburg, F. A, de Rooij-Askes, E, Linders, C, Boot, E, van Eeghen, A. M

“…Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterized by intellectual disability and severe behavioural and sleep…”
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An aetiological study of 25 mentally retarded adults with autism by van Karnebeek, C D M, van Gelderen, I, Nijhof, G J, Abeling, N G, Vreken, P, Redeker, E J, van Eeghen, A M, Hoovers, J M N, Hennekam, R C M

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Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome by van Eeghen, A.M., Stemkens, D., Fernández-Fructuoso, José Ramón, Maruani, A., Hadzsiev, K., Gaasterland, C.M.W., Klein Haneveld, M.J., Vyshka, Klea, Hugon, A., van Eeghen, A.M., Alhambra, Norma, Anderlid, Britt-Marie, Andres, Stephanie, Aten, Emmelien, Guedes, Rui Barbosa, Bonaglia, Maria C., Bourgeron, Thomas, Burdeus-Olavarrieta, Monica, Carbin, Maya J., Cooke, Jennifer, Damstra, Robert J., de Coo, Irenaeus F.M., Di Domenico, Stella, Evans, D. Gareth, Fernández-Fructuoso, José Ramón, Grabrucker, Andreas M., Gunnarson, Cecilia, Hadzsiev, Kinga, Hennekam, Raoul C., Jesse, Sarah, Kant, Sarina G., Koza, Sylvia A., Kuiper, Els, Landlust, Annemiek M., Lapunzina, Pablo, Loth, Eva, Mansour, Sahar, Maruani, Anna, Mattina, Teresa, Matulevičienė, Aušra, Nevado, Julián, Parker, Susanne, Robert, Sandra, Sala, Carlo, San José Cáceres, Antonia, Schön, Michael, Šiaurytė, Kamilė, Stemkens, Daphne, Stiefsohn, Dominique, Swillen, Ann, Tabet, Anne C., Toro, Roberto, Turner, Alison, van Balkom, Ingrid D.C., van Buggenhout, Griet, van Eeghen, Agnies M., van Ravenswaaij-Arts, Conny M.A., van Weering, Sabrina, Verpelli, Chiara, Vignes, Stephane, Vogels, Annick, Vyshka, Klea, Walinga, Margreet, van Balkom, I.D.C.

“…The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we…”
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Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives by Overwater, Iris E, Rietman, André B, van Eeghen, Agnies M, de Wit, Marie Claire Y

“…Up to 90% of patients with tuberous sclerosis complex (TSC) have epilepsy, and in over half of patients seizure control cannot be achieved by regular…”
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Costello syndrome: Report and review by van Eeghen, Agnies M., van Gelderen, Ietje, Hennekam, Raoul C.M.

“…We describe a 34‐year‐old woman with mental retardation, short stature, macrocephaly, a “coarse” face, hoarse voice, and redundant skin with deep palmar and…”
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Somatic comorbidity in children and adults with intellectual disability and mental health problems. by van Eeghen, A M, Huisman, S A, van Goethem, G, Boot, E

“…People with intellectual disability (id) frequently suffer from somatic and psychiatric comorbidity. Somatic morbidity can be the cause and the result of…”
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Fragile X syndrome: new therapeutic strategies by Zeidler, S, Dierckx, B, Lubbers, K, van Eeghen, A M, Lincke, C R, Kievit, J A, Willemsen, R, Rietman, A

“…Fragile X syndrome (fxs) is the most common hereditary cause of intellectual disability and autism spectrum disorders. Targeted treatment is currently lacking…”
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