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Phelan-McDermid Syndrome Foundation

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Cadena de valorCadena de valor07.07.2025 | Micròfons solidaris: el periodisme unit enfront de les malalties raresL'Associació Professional de Periodistes Valencians celebra esta setmana una nova edició de la seua Gala Benèfica, i ho fa amb un objectiu clar: seguir mostrant que la comunicació és també motor de canvi social. En esta edició, la recaptació anirà destinada a l'Associació Síndrome Phelan-McDermid. L’especialista de hui per parlar-ne és Héctor González, president de l’Associació de Periodistes Valencians. En l’entrevista del dia disfrutem d’una saborosa conversa amb Anabel Navas, directora de Bierwinkel, al voltant d'haver-se convertit en la primera dona espanyola a ser nomenada Chevalier d’Honneur per la confraria belga de cervesers.2025-07-0729 mingenetics – ASF Weekly Science Podcastsgenetics – ASF Weekly Science PodcastsGenetic therapies in store for neurodevelopmental disorders Gene therapies have been in the news lately. They are being used to help individuals who have a genetic variant linked to a disorder or disease, including but not limited to: spinal muscular atrophy, carbamoyl phosphate synthetase 1 (CPS1) deficiency, diabetes and some types of cancers. What is the promise in rare genetic forms of neurodevelopmental disorders and autism? This week, scientists from Jaguar Gene Therapy discuss their ongoing studies in Phelan-McDermid Syndrome and how gene therapies hold promise for treating neurological impairments caused by a known genetic variant. The interview provides basic information of what a gene therapy is...2025-06-1644 minheterogeneity – ASF Weekly Science Podcastsheterogeneity – ASF Weekly Science PodcastsGenetic therapies in store for neurodevelopmental disorders Gene therapies have been in the news lately. They are being used to help individuals who have a genetic variant linked to a disorder or disease, including but not limited to: spinal muscular atrophy, carbamoyl phosphate synthetase 1 (CPS1) deficiency, diabetes and some types of cancers. What is the promise in rare genetic forms of neurodevelopmental disorders and autism? This week, scientists from Jaguar Gene Therapy discuss their ongoing studies in Phelan-McDermid Syndrome and how gene therapies hold promise for treating neurological impairments caused by a known genetic variant. The interview provides basic information of what a gene therapy is...2025-06-1644 minAutism Science Foundation Weekly Science ReportAutism Science Foundation Weekly Science ReportGenetic therapies in store for neurodevelopmental disordersGene therapies have been in the news lately. They are being used to help individuals who have a genetic variant linked to a disorder or disease, including but not limited to: spinal muscular atrophy, carbamoyl phosphate synthetase 1 (CPS1) deficiency, diabetes and some types of cancers. What is the promise in rare genetic forms of neurodevelopmental disorders and autism? This week, scientists from Jaguar Therapeutics discuss their ongoing studies in Phelan-McDermid Syndrome and how gene therapies hold promise for treating neurological impairments caused by a known genetic variant. The interview provides basic information of what a gene therapy is, how...2025-06-1644 minASF Weekly Science PodcastsASF Weekly Science PodcastsGenetic therapies in store for neurodevelopmental disorders Gene therapies have been in the news lately. They are being used to help individuals who have a genetic variant linked to a disorder or disease, including but not limited to: spinal muscular atrophy, carbamoyl phosphate synthetase 1 (CPS1) deficiency, diabetes and some types of cancers. What is the promise in rare genetic forms of neurodevelopmental disorders and autism? This week, scientists from Jaguar Gene Therapy discuss their ongoing studies in Phelan-McDermid Syndrome and how gene therapies hold promise for treating neurological impairments caused by a known genetic variant. The interview provides basic information of what a gene therapy is...2025-06-1644 minAutism Science Foundation Weekly Science ReportAutism Science Foundation Weekly Science ReportGenetic therapies in store for neurodevelopmental disorders Gene therapies have been in the news lately. They are being used to help individuals who have a genetic variant linked to a disorder or disease, including but not limited to: spinal muscular atrophy, carbamoyl phosphate synthetase 1 (CPS1) deficiency, diabetes and some types of cancers. What is the promise in rare genetic forms of neurodevelopmental disorders and autism? This week, scientists from Jaguar Gene Therapy discuss their ongoing studies in Phelan-McDermid Syndrome and how gene therapies hold promise for treating neurological impairments caused by a known genetic variant. The interview provides basic information of what a gene therapy is...2025-06-1644 minAutism OdysseyAutism OdysseyAutism and Phelan-McDermid SyndromBetsy Hicks-Russ interviews Martha Castillo, who shares her journey as a mother navigating the complexities of raising her son Matthew, who was diagnosed with autism and Phelan McDermid syndrome. Martha discusses the challenges of early diagnosis, the importance of community support, and the emotional toll of regression in communication. They explore the dynamics of friendships, the impact of public perception, and the significance of dietary changes in managing health. The conversation emphasizes the need for understanding and compassion within the special needs community.https://pmsf.org/phelan-lucky/ Find Martha on Instagram - TeamMatthewLuis2025-05-3026 minМир наоборотМир наоборотКак обстоят дела с генетикой?Сегодня у меня в гостях Мария Парфененко — научный и медицинский работник в области медицинской генетики, преподаватель и нейроотличный человек. С Марией мы сегодня поговорим о генетике РАС: 1) Что сегодня известно о генетике аутизма? 2) Зачем вообще нужно изучать генетику РАС? 3) Как генетические исследования могут помочь сегодня аутичным людям? Все это и многое другое мы обсудили с Марией в эпизоде. Важно отметить, что с Марией мы говорили о генетике НЕ в разрезе репродуктивного поведения, а с позиции того, как генетика может помочь аутичным людям. Напоминаю, что поддержать подкаст можно финансово любой удобной суммой по ссылке ниже, либо по кнопке в канале подкаста «Мир наоборот»: https://t.me/tribute/app?startapp=d548 Полезные ссылки: 1. Канал подкаста «Мир наоборот»: https://t.me/mirnaoborotbyElizaveta 2. Описание синдрома Фелан-МакДермид: https://rarediseases.org/rare-diseases/phelan-mcdermid-syndrome/ 3. Информация о клинических испытаниях препарата: https://ctv.veeva.com/study/jag201-gene-therapy-study-in-children-adults-with-shank3-haploinsufficiency 5. Статья про одну из синдромальных форм аутизма: https://www.researchgate.net/publication/386050784_Expansion_of_phenotypic_and_genotypic_data_in_autism_spectrum_disorders_due_to_variants_in_the_CHD8_gene6. База данных с генами, ассоциированными с РАС: https://gene.sfari.org/database/human-gene/7. Данные по общей наследуемости РАС: https://pmc.ncbi.nlm.nih.gov/articles/PMC5818813/8. Канал звукорежиссера: https://t.me/mommasgenius Контакты для связи и сотрудничества: @ElizavetaRozh2022 2025-05-0450 minBetween the BellsBetween the BellsMorning Bell 15 AprilWall Street started the new trading week in the green as investors welcomed the latest tariff exemption from Trump in the form of smartphones and computers in addition to other devices and components like semiconductors. The Dow Jones rose 0.78% on Monday, the S&P500 gained 0.79% and the tech-heavy Nasdaq ended the day up 0.64%. While the tariff exemption is welcome right now, Trump teased on Sunday that the exemptions are not permanent, i.e. the Trump tariff rollercoaster continues.In Europe on Monday, markets closed higher as Trump exemptions boosted investor sentiment, temporarily. The STOXX 600 rose 2.7%, Germany’s DA...2025-04-1503 minProgress, Potential, and Possibilities Podcast / ShowProgress, Potential, and Possibilities Podcast / ShowDr. Alycia Halladay, Ph.D. - Chief Science Officer, Autism Science Foundation - Evidence-Based Autism ResearchSend us a textDr. Alycia Halladay, Ph.D. is Chief Science Officer of the Autism Science Foundation ( https://autismsciencefoundation.org/teams/dr-alycia-halladay/ ), a nonprofit organization dedicated to supporting people with autism and their families by funding scientific research to understand the causes of autism and to develop better treatments, to enable individuals with autism to lead fulfilling lives with dignity.Dr. Halladay oversees the scientific activities, grants, and initiatives of ASF. She also produces a weekly podcast aimed specifically at explaining scientific information to the public. Prior to joining ASF in 2014, Dr. H...2025-03-2158 minParece MentiraParece MentiraHablamos con Beatriz Perelló sobre el síndrome Phelan - McDermidConocemos más sobre un síndrome infradiagnosticado para el que la visibilidad es muy importante.2025-03-1412 minNO ME CAMBIES LA VIDANO ME CAMBIES LA VIDAENTREVISTA AL PAPÁ DE JIMENA, NIÑA CON SÍNDROME DE PHELAN MCDERMID. P275ENTREVISTA AL PAPÁ DE JIMENA, NIÑA CON SÍNDROME DE PHELAN MCDERMID. 27 DE ENERO DE 2025. TEMPORADA VII. Entrevista en los micrófonos de NO ME CAMBIES LA VIDA al papá de Jimena, es una niña con Síndrome de Phelan Mcdermid. Te animamos a escuchar esta magnífica entrevista.2025-01-2726 minFuck Normal, I Want MagicFuck Normal, I Want MagicEl amor a través de una condición: Phelan-McDermid X AnaYo y Andrés¿Qué sucede cuando tus expectativas como padre son transformadas por un diagnóstico inesperado? En este episodio exploramos una historia de amor, resiliencia y aprendizaje. Andrés Brizuela y AnaYo Covarrubias comparten cómo el síndrome Phelan-McDermid de su hija Lucía no solo redefinió su paternidad, sino que también los conectó con lo que realmente importa: una vida llena de empatía, comunidad y amor incondicional. Desde la incertidumbre inicial hasta la celebración de cada pequeño logro, este episodio nos invita a reflexionar sobre nuestras propias prioridades y a mirar el mundo desd...2024-12-031h 08Más de Uno MadridMás de Uno Madrid¿Qué es el síndrome de Phelan-McDermid?Hablamos con Norma Alhambra y Sara Sierra, presidenta y vicepresidenta de la Asociación Phelan McDermid, una entidad madrileña que tiene como objetivo visibilizar y recaudar medios para mejorar la calidad de vida de las personas afectadas por el Síndrome mediante la aceleración de la investigación, el apoyo a las familias y la sensibilización.2024-11-2605 minCuando tu hijo es diferenteCuando tu hijo es diferenteAutismo y diagnósticos genéticos con Valeria Nieva-Ep 162Este es el testimonio de Valeria, madre de Gaspar, un pequeño de 6 años con autismo y Síndrome Phelan-McDermid que fue diagnosticado con esta enfermedad rara después de varias pruebas genéticas. Valeria y Gaspar, junto con el padre de este, Gastón, que viven en Argentina. Valeria nos cuenta del proceso de diagnóstico que se inició por problemas graves de sueño y retrasos motores en el pequeño. Con 18 meses ya lo diagnosticaron con TEA. Sin embargo, toda una serie de problemas orgánicos posteriores y la ayuda de una amiga geneticista les llevaron a...2024-11-2552 minPORTU RADIO (KAFETEGIA)PORTU RADIO (KAFETEGIA)Kafetegia (24/10/24)Programa emitido el 24 de octubre. Hablaremos hoy de la petición formal del Ayuntamiento de Portugalete al vecino consistorio de Santurtzi para que se vuelva a reabrir la carretera  del puerto; en Santurtzi debatiremos sobre el problema continuo de aparición de ratas en la vía pública que llevan denunciando desde hace meses los vecinos; en Getxo la noticia nos conducirá hasta la ampliación de la plantilla de la policía municipal en 10 agentes y esa novedad de que a cinco de ellos no se les requerirá perfil de euskera y, por último, Ortuella y Muskiz s...2024-10-2459 minConvos with Dr. KateConvos with Dr. KateDr. Katy Phelan - The History of Phelan-McDermid syndrome and the FoundationKate chats with Dr. Katy Phelan, Scientific Advisor to the Foundation, namesake for the syndrome, and co-Founder of the Phelan-McDermid Syndrome Foundation (PMSF). They discuss her work identifying the first case of Phelan-McDermid syndrome, and the story behind her efforts to gather families. With the help of Co-founders Sue Lomas, Curtis Rogers and Nick Assendelft, this led to the establishment of a community, and ultimately the Foundation. Katy reflects on her favorite memories, her role now, and describes the evolution of genetic understanding of Phelan-McDermid syndrome over the years. 2022 Founders presentation: https://www.youtube.com/watch?v...2024-06-2231 minConvos with Dr. KateConvos with Dr. KateRonni Blumenthal & Diane Linnehan - The 2024 PMSF International Family ConferenceKate is joined by PMSF leadership, CEO Ronni Blumenthal, and Sr. Director of Operations, Diane Linnehan, to bring you a special episode on all things 2024 Family Conference, coming up this July. They discuss all the exciting new things this year, and give a peek behind-the-scenes into the decision-making process at PMSF. They also discuss the conference agenda, keynote speaker, activities at the Mall of America, budget planning, strategies for getting the most out of the trip, and more. A special thank you to our presenting sponsor for the conference, Neuren Pharmaceuticals. All details on the conference can...2024-05-2233 minConvos with Dr. KateConvos with Dr. KateDr. Luigi Boccuto - Understanding the impact of other genes beyond SHANK3 in Phelan-McDermid syndromeKate engages Dr. Luigi Boccuto, Associate Professor at Clemson University, about his work studying genes other than SHANK3 and their impact in Phelan-McDermid syndrome. They highlight a recent publication authored by Dr. Boccuto, Dr. Andy Mitz, and Dr. Audrey Thurm, linked below. Dr. Boccuto describes how multiple genes in the 22q13 region, when altered, can have overlapping impacts on neurodevelopment. Understanding the importance of each of these genes can help improve the management and treatment of Phelan-McDermid syndrome long-term as clinical care moves more towards personalized medicine.  Publication link: https://onlinelibrary.wiley.c...2024-04-2230 minBrain & LifeBrain & LifeKhari "Needlz" Cain Discusses Finding “Makayla’s Voice” In this week’s episode, Brain & Life Podcast co-host Dr. Daniel Correa speaks with Khari “Needlz” Cain, music producer and father to Makayla, a 16-year-old on the autism spectrum. Khari and his family recently created a film titled Makayla’s Voice: A Letter to the World that shares her experience finding a way to communicate using letter board therapy. As Makayla’s voice has gradually emerged, she has shown her intelligence, interests, and sense of humor to her loved ones. Khari discusses that journey, the accessibility of treatment, and his hopes for the future. Then Dr. Deepa Menon, a child neur...2024-04-0446 minConvos with Dr. KateConvos with Dr. KateNeuren Pharmaceuticals - Drug NNZ-2591 for Phelan-McDermid syndromeThis month we feature three representatives from Neuren Pharmaceuticals to answer frequently asked questions about the recent Phase 2 clinical trial, and plans for a Phase 3. Larry Glass, Neuren’s Chief Science Officer provides an insightful breakdown of NNZ-2591, the drug that was being tested. Additionally, Liza Squires, Chief Medical Officer, and Nancy Jones, VP of Clinical Development, offer an overview of the safety, tolerability, and efficacy results. Important links: Phase 2 top line results: https://pmsf.org/document/neuren-phase-2-trial-investor-presentation/?fbclid=IwAR2ytXd7HXVfjJ9hFxwUVlVgJvI_KkczBTpGJCNUOMLTzgUAI6lPy1ZZO9g 2024-03-2222 minConvos with Dr. KateConvos with Dr. KateDr. Tony Persico - Clinical trial results of a metabolic support therapy in Phelan-McDermid syndromeKate chats with Dr. Tony Persico, an Italian clinician and researcher who recently ran a clinical trial testing metabolic support therapy for Phelan-McDermid syndrome. This therapy is an antioxidant/vitamin combination consisting of Coenzyme Q10, Vitamin E, and Polyvitamin B. They discuss the rationale, the study design, positive results, potential side effects, access for families, and next steps.  Learn more about the study here: https://www.oaepublish.com/articles/rdodj.2023.08 Dr. Tony Persico is an active member of the Italian Association for Phelan-McDermid syndrome and the Neuropsychiatric Consult Group.2024-02-2229 minConvos with Dr. KateConvos with Dr. KateCarla D’Imperio - A mental health support program for Phelan-McDermid syndrome caregiversKate interviews Carla D’Imperio, fellow PMSF staff member and Family Support Specialist, on a program she leads to support mental health for Phelan-McDermid syndrome caregivers. This program, called Caregiver Support Groups, was started last year with funding from Global Genes and is continuing into 2024. Carla explains the decision to start this program and the positive impact it has made in the community. She delves into the importance of having licensed professionals lead these sessions. And she describes which groupings are offered, how to sign up, and how the program is changing over time. International families are welcome to joi...2024-01-2226 minConvos with Dr. KateConvos with Dr. KateDr. Christy Zigler - Measuring communication in neurodevelopmental disordersKate sits down with Dr. Zigler, Associate Professor at Duke University, to discuss her efforts to more accurately capture communication in Phelan-McDermid syndrome and other neurodevelopmental disorders. The goal is to have a clinical assessment that better measures communication progress - for families, and for clinical studies and trials. With funding from the FDA, Dr. Zigler is adapting a current communication measure, the ORCA. Kate asks what the ORCA is, why it is being adapted, what's been done so far, and how families can play a role. 2023-12-2228 minGRUPORADIOCOMPLICES.COMGRUPORADIOCOMPLICES.COM05-12-2023 GRUPORADIOCOMPLICES.COM con FERNANDO RODRIGUEZ & ESTRELLA, en "LUZ DE NOCHE", Hoy "EL PEQUEÑO MUNDO DE ALVARO",  MAMEN de la Asociacion Sindrome Phelan McDermidGRUPORADIOCOMPLICES.COM con FERNANDO RODRIGUEZ & ESTRELLA, en "LUZ DE NOCHE", Hoy "EL PEQUEÑO MUNDO DE ALVARO",  MAMEN de la Asociacion Sindrome Phelan McDermid web oficial Prog 05-12-2023 2023-12-061h 26Convos with Dr. KateConvos with Dr. KateDr. Thomas Bourgeron - The importance of genetics research in Phelan-McDermid syndromeKate engages Dr. Thomas Bourgeron, genetics expert, PMSF Scientific Advisory Committee member, and longstanding researcher in Phelan-McDermid syndrome. They discuss the importance of studying genetics to better understand disorders like Phelan-McDermid and autism. Dr. Bourgeron explains that in the early 2000’s, his lab and others identified a link between the SHANK3 gene and the occurrence of autism. He then explains the scientific journey - from identifying a gene of interest, to testing therapeutics in lab models, and describes a current clinical trial for lithium ongoing in France. He also summarizes his top goals for future research in Phelan-McDermid syndrome....2023-11-2230 minDistintos CaminosDistintos CaminosEfemerides Por Pablo - 24.10.23Pablo se puso la 10 y te conto las efemérides sobre el Día Internacional del Síndrome de Phelan-McDermid (22/10/23), el Día Mundial de las Personas de Talla Baja (25/10/23) y el Día Mundial del Ictus (29/10/23) ¿Te gusto? déjanos en los comentarios si queres que nuestro operador estrella siga leyendo las efemérides o lo volvemos a que nos que nos deleite con la música.2023-10-2604 minConvos with Dr. KateConvos with Dr. KateDr. Kate Still - New Research Funded by PMSFJoin Kate, Scientific Director of PMSF, as she delves into how research funding works, how much money is required, and all the details of how PMSF's new Research Grants Program works. She explains how the program was set up, how funding categories were chosen, the review process used by scientists and families, and provides summaries of the three grants PMSF is funding in 2023/2024. 2023-10-2225 minConvos with Dr. KateConvos with Dr. KateDr. Siddharth Srivastava - A research career in Phelan-McDermid syndrome and other rare diseasesKate highlights Dr. Sid Srivastava, a clinician at Boston Children's Hospital studying Phelan-McDermid syndrome in the Natural History Study. She asks - how did he become interested in rare diseases like Phelan-McDermid syndrome? What does a typical Natural History Study visit look like for families? What research projects is he working on? What are the biggest findings he's seen in studying the syndrome? For enrollment information on the Natural History Study, see: https://pmsf.org/enrollment-is-currently-open-for-phase-ii-of-the-phelan-mcdermid-syndrome-pms-natural-history-study/2023-09-2226 min3 questions à ... (Ardèche-Drôme)3 questions à ... (Ardèche-Drôme)Rafday : Une journée au profit de l'association "La tribu de Rafael"Le village de Laurac en Vivarais, près d'Aubenas, accueille ce week-end la 5ème édition du Rafday...Une journée ludique et sportive au profit d'une association qui vient en aide aux enfants atteints du syndrome Phelan-McDermid, une maladie génétique, qui touche 1 enfant sur 1 million dans le monde2023-09-1903 minConvos with Dr. KateConvos with Dr. KateDr. Conny van Ravenswaaij - European Phelan-McDermid Syndrome ConsortiumDr. Conny van Ravenswaaij runs an expert Phelan-McDermid syndrome clinic in the Netherlands, and was a leading force behind the European Phelan-McDermid syndrome clinical consensus guidelines. She and Kate discuss the clinical recommendations and how to share them with your clinicians. Conny also covers a clinical trial that she ran on intranasal insulin, and current work studying Ring 22 in Phelan-McDermid syndrome.  Important links: Clinical synopsis of european guidelines: https://ern-ithaca.eu/wp-content/uploads/2023/05/Clinical-synopsis-PMS-1.pdf PMSF conference session on genetics (including Ring 22): https://www.youtube.com/watch?v...2023-08-2229 minConvos with Dr. KateConvos with Dr. KateJaguar Gene Therapy - A gene therapy for Phelan-McDermid syndromeKate chats with Jaguar Gene Therapy about the progress the company has made in testing a gene therapy for Phelan-McDermid syndrome over the past couple of years. She asks what steps are still needed to take this therapy to clinical trials (if it proves safe and effective). Also covered: how gene therapy works, the target as SHANK3, ongoing animal testing, and timelines. 2023-07-2224 minSolidariosSolidariosSolidarios: Capas verdes contra el villanoEn este programa atendemos una petición, la de ser el altavoz de niños y niñas con Síndrome de Phelan McDermid, una deleción del cromosoma 22q13… es el villano al que plantamos cara con capas verdes, coraje y un grito: ¡Somos los buenos!2023-06-3034 minConvos with Dr. KateConvos with Dr. KateAnnie Kennedy - Receiving an ICD code specific to Phelan-McDermid syndromeRecently, the Phelan-McDermid Syndrome Foundation was successful in applying for and receiving a specific ICD code (International Classification of Diseases code) for Phelan-McDermid syndrome from the Centers for Disease Control (CDC). Kate sits down with Annie Kennedy of the EveryLife Foundation, who has longstanding expertise in what a specific code can mean for progress for rare diseases. Kate asks - what exactly is an ICD code? What does this mean for progress in Phelan-McDermid syndrome research? Why didn't we have one already? Can it be used internationally? What was the process in getting one? What are some examples of...2023-06-2229 minConvos with Dr. KateConvos with Dr. KateDr. Tesi Kohlenberg & Dr. Asif Rahman - Neuropsychiatric illness and regression research in Phelan-McDermid syndromeDr. Kohlenberg and Dr. Rahman are both clinicians with expertise in neuropsychiatric illness in Phelan-McDermid syndrome. They discuss the first signs and symptoms, where to find treatment guidelines, how to connect your clinician with experts, and the difference between neuropsychiatric illness and regression. They discuss top research questions and progress. Kate points out where families can find key resources along the way. Dr. Kohlenberg is a pediatrician with decades of experience in child psychiatry. She is also mom to an adult daughter with PMS who was diagnosed as a result of neuropsychiatric illness, and...2023-05-2232 minConvos with Dr. KateConvos with Dr. KateGabi Conecker - Cross-disorder research, The Inchstone ProjectGabi Conecker leads the Inchstone Project, an effort to ensure people with conditions like PMS don't bottom out on clinical assessments and their progress is measured. For clinical trials, it is crucial to show a drug is making positive change, which requires sensitive assessments. PMSF is taking an active role in the Inchstone Project, and other projects to improve clinical assessments. Clinicians in PMS and other groups are also constantly working towards improved clinical assessments. This podcast discusses some of what it takes to improve assessments. Gabi Conecker is the Founder of Decoding Developmental Epilepsies, previously "Wishes...2023-04-2226 minConvos with Dr. KateConvos with Dr. KateDr. Sue Fletcher and Dr. Rebecca Simmons - Development of an RNA therapeutic for Phelan-McDermid syndromePYC Therapeutics is a pharmaceutical company developing an RNA therapeutic for Phelan-McDermid syndrome. Dr. Sue Fletcher (Chief Scientific Officer) and Rebecca Simmons (current Group Lead) describe these efforts. Kate asks what exactly are RNA therapeutics? What is this drug targeting and how does it work? What are the timelines and plans going forward? What will be measured to see if the drug is working? What types of challenges are associated with the approach? What can the foundation and families do to support drug development? 2023-03-2224 minBuscadores de Respuestas AUTISMO / TEA / CEABuscadores de Respuestas AUTISMO / TEA / CEABR E #34. Dr. Jose Ramón Fernández. Neonatólogo. Parte 4 de 4.BUSCADORES DE RESPUESTAS ENTREVISTAS Es para nosotros un placer traerte esta entrevista con el Doctor Jose Ramón Fernández, (pediatra) neonatólogo, una profesión bastante desconocida pero tremendamente importante. Actualmente trabaja en la Unidad de Neonatología del Hospital Santa Lucía de Cartagena, Murcia, España. Jose Ramón, junto con su mujer Raquel Sastre, e inspirados por su hija Emma son muy activos en la defensa de derechos tanto de la comunidad autista como de los pacientes con el síndrome Phelan-McDermid. Su labor de denuncia ha resultado decisiva para, entre otras cosas, lograr traer a su lugar...2023-03-1925 minBuscadores de Respuestas AUTISMO / TEA / CEABuscadores de Respuestas AUTISMO / TEA / CEABR E #33. Dr. Jose Ramón Fernández. Neonatólogo. Parte 3 de 4.BUSCADORES DE RESPUESTAS ENTREVISTAS Es para nosotros un placer traerte esta entrevista con el Doctor Jose Ramón Fernández, (pediatra) neonatólogo, una profesión bastante desconocida pero tremendamente importante. Actualmente trabaja en la Unidad de Neonatología del Hospital Santa Lucía de Cartagena, Murcia, España. Jose Ramón, junto con su mujer Raquel Sastre, e inspirados por su hija Emma son muy activos en la defensa de derechos tanto de la comunidad autista como de los pacientes con el síndrome Phelan-McDermid. Su labor de denuncia ha resultado decisiva para, entre otras cosas, lograr traer a su lugar...2023-03-1224 minHistorias Poco FrecuentesHistorias Poco FrecuentesPhelan-McDermid, un síndrome invisibilizado por el TEAEl síndrome Phelan-McDermid o de delección 22q13, es una patología genética infradiagnosticada que causa una gran variedad de síntomas2023-03-0603 minBuscadores de Respuestas AUTISMO / TEA / CEABuscadores de Respuestas AUTISMO / TEA / CEABR E #32. Dr. Jose Ramón Fernández. Neonatólogo. Parte 2 de 4.BUSCADORES DE RESPUESTAS ENTREVISTAS Es para nosotros un placer traerte esta entrevista con el Doctor Jose Ramón Fernández, (pediatra) neonatólogo, una profesión bastante desconocida pero tremendamente importante. Actualmente trabaja en la Unidad de Neonatología del Hospital Santa Lucía de Cartagena, Murcia, España. Jose Ramón, junto con su mujer Raquel Sastre, e inspirados por su hija Emma son muy activos en la defensa de derechos tanto de la comunidad autista como de los pacientes con el síndrome Phelan-McDermid. Su labor de denuncia ha resultado decisiva para, entre otras cosas, lograr traer a su lugar...2023-03-0528 minDMCN JournalDMCN JournalNeurodevelopmental profile and stages of regression in Phelan–McDermid syndrome | Dille | DMCNIn this podcast, Yumi Dille discusses her paper 'Neurodevelopmental profile and stages of regression in Phelan–McDermid syndrome' The paper is available to read here: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.15482 Subscribe to our channel for more:   https://bit.ly/2ONCYiC    ___  Listen to all our episodes:  https://bit.ly/2yPFgTC   __  DMCN Journal:  Developmental Medicine & Child Neurology (DMCN) has defined the field of paediatric neurology and childhood-onset neurodisability for over 60 years. DMCN disseminates the latest clinical research results globally to enhance the care and impr...2023-03-0103 minBuscadores de Respuestas AUTISMO / TEA / CEABuscadores de Respuestas AUTISMO / TEA / CEABR E #31. Dr. Jose Ramón Fernández. Neonatólogo. Parte 1 de 4.BUSCADORES DE RESPUESTAS ENTREVISTAS Es para nosotros un placer traerte esta entrevista con el Doctor Jose Ramón Fernández, (pediatra) neonatólogo, una profesión bastante desconocida pero tremendamente importante. Actualmente trabaja en la Unidad de Neonatología del Hospital Santa Lucía de Cartagena, Murcia, España. Jose Ramón, junto con su mujer Raquel Sastre, e inspirados por su hija Emma son muy activos en la defensa de derechos tanto de la comunidad autista como de los pacientes con el síndrome Phelan-McDermid. Su labor de denuncia ha resultado decisiva para, entre otras cosas, lograr traer a su lugar...2023-02-2627 minConvos with Dr. KateConvos with Dr. KateDr. Billy Bennett - Family engagement research in genetic counseling and GI managementDr. Billy Bennett has been working with the Foundation for the past year on two initiatives that are considered family engagement research. The first is focused on the genetic counseling process and some of the common challenges families face in these meetings. We review a federally-funded research project that collected feedback from families to improve the genetic counseling process, and cover the next steps we are taking to change this process alongside genetic counselors. We also review the findings from a second initiative, called CANDID, an NIH-funded conference.  CANDID served to bring together families, clinicians, scientists, patient advocacy groups, a...2023-02-2128 minConvos with Dr. KateConvos with Dr. KateDr. Alex Kolevzon - New clinical consensus guidelines for Phelan-McDermid syndromeDr. Kolevzon has been leading a team of clinicians to develop clinical guidelines for the management and monitoring of PMS.  Kate asks - what are clinical consensus guidelines exactly? Which categories of medical care will be included? When will the guidelines be released? How can families best use this information? How are guidelines developed? How have the guidelines changed since the first iteration in 2014? What areas of research have seen the most growth? How can families bring forward patterns they notice to help shape the guidelines as they continue to evolve? Dr. Alex Kolevzon is a psychiatrist a...2023-01-1930 minLos Silencios de ElanLos Silencios de ElanPrograma 269 - Hablamos de la enfermedad Phelan-McdermidEl síndrome de Phelan-McDermid se produce por una alteración cromosómica; en concreto, por la delección del cromosoma 22q13. En su mayoría, los diagnosticados son niños entre 5 y 15 años. Cuando hablamos de enfermedades raras hay que pensar que, aunque cada una de ellas afecta a un número limitado de personas (lo que dificulta la detección y la investigación, si hablamos de números globales), solo en España hay tres millones de personas con una enfermedad poco frecuente o en busca de su diagnóstico, según datos de FEDER (Federación Española de E...2023-01-0858 minDitching PerfectionDitching PerfectionEpisode 15: Ditching Expectations and Learning to Ask for Help | Ashley SomersWhy is asking for help so hard? As kids, it was a norm to ask for help, but as adults, we see asking for help as a sign of weakness. Why is that? On today’s podcast, my friend Ashley Somers is here to help us learn to get vulnerable, lean on our community, and ask for help. She also wisely shares that so often we miss being present in the present because we are so busy hustling and trying to force our hopes into reality. She helps us learn to live open-handed, ready to ditch our ex...2022-05-2458 minAutism ConfidentialAutism ConfidentialEpisode 4 - Is Autism Research Failing Us? A Conversation with Alycia Halladay, PhDAlycia Halladay, PhD, is Chief Science Officer of Autism Science Foundation and has years of experience working to promote and fund autism research. NCSA President Jill Escher talks with her about progress -- and lack thereof -- in autism research over the past 30 years. Highlights: • 30 years ago scientists assumed they could find singular causes and treatments for autism, but the reality turned out to be far more complicated. Autism is many different disorders with different underlying causes and biology. • Though many areas of autism research have seen slow progress, we've seen improvements in early...2022-04-1857 minLate Night on the Zodiac ChatlineLate Night on the Zodiac ChatlineQ&A! Full Moon in Virgo and Plants (With special guest!) 3.17.2022The Chatline talks about tomorrow’s Full Moon in Virgo and all it’s confusing machinations opposite Neptune, Jupiter, and Mercury in Pisces (spoiler alert: stay with your body if your brain and emotions are all over the place). We then invite our green witch and producer extraordinaire, Coral, into the chat to talk plants and how to use the moon phases to cultivate your plant babies. Get out your Grimoires, y’all! Sticking with our green theme, the Chatline also broke down the signs as plants! Which sign thinks it’s a tree but is really a shrub? Gotta watch to...2022-03-1854 minEl Podcast de Ana AlabortEl Podcast de Ana Alabort065. Enfermedades "raras".Síndrome Phelan-McDermid. Entrevista a Joaquín Illescas🚩Prepárate. porque ha entrado por la puerta grande del Pódcast Joaquín Illescas.Es una conversación a corazón abierto, tanto el suyo... como el mío.🎤Joaquín es experto en tecnología y finanzas, tiene dos hijos, su hijo Hugo padece la enfermedad rara "Síndrome Phelan-McDermid".🎬En 2021 se estrenó el documental "El Gen de Hugo" en el que descubres todas las caras de esta desconocida afección.La mayor parte de la entrevista se la dedicamos a este GEN y alo que provoca en la familia y alrededores tener un...2022-03-0343 minRare Mamas RisingRare Mamas RisingNutrition Coaching for Rare Mamas with Dietitian Nutritionist and Rare Mom Chardell BuchananRARE MAMAS RISING- EPISODE 009  Nutrition Coaching for Rare Mamas with Dietitian Nutritionist and Rare Mom Chardell Buchanan Chardell Buchanan is a Registered Dietitian Nutritionist who offers nutrition coaching to moms of children with disabilities. At the age of two and a half, Chardell's son, Ben, was diagnosed with a rare genetic disorder called Phelan-McDermid Syndrome. After Ben's diagnosis, her life was busy, and survival was the goal. Soon she realized not prioritizing her own health was affecting how she showed up for her entire family. She started using her professional skills as a dietitian nutritionist to...2021-11-0338 minEl Diario De VIAJEEl Diario De VIAJEEl Síndrome de Phelan-McDermid se hizo escuchar en todo el mundo el 22 de octubreNorma Alhambra, presidente de la Asociación Phelan-McDermid de España, conversó con Ricardo Terán en LT3 AM 680 de Rosario, Argentina, acerca de esta enfermedad rara, que provoca condiciones del espectro autista, ausencia de habla, fragilidad intelectual e hipotonía muscular, entre otras patologías asociadas.  Cada 22 de octubre se conmemora el día internacional de este síndrome, dándoles voz a los padres de personas afectadas, expresando la necesidad de encontrar el diagnostico a través de un estudio genético, que consiste en un simple análisis de sangre. Encontrar la causante de e...2021-10-2431 minLos Silencios de ElanLos Silencios de ElanPrograma 217 - Lo Inesperado - Phelan-McDermid“Lo inesperado” es el título del libro escrito para visibilizar los padecimientos poco frecuentes por Pilar Grande -madre de un niño que sufre ese síndrome- e ilustrado por María Rodríguez con dibujos de acuarela que pretenden llegar al público familiar; los fondos recaudados con la venta se destinarán íntegramente a la investigación de esta enfermedad. Más info en www.lossilenciosdeelan.com (sección programa de radio - temporada 8)2021-06-2955 minEspeciales KISS FMEspeciales KISS FMEntrevista - Raquel Sastre: "Risas al punto de sal"La cómica Raquel Sastre da el salto a la literatura de la mano de su hija Emma, para narrar su experiencia (y la de su familia) con el síndrome de Phelan-McDermid, una enfermedad genética que causa -entre otras cosas- discapacidad intelectual y ausencia de lenguaje. See omnystudio.com/listener for privacy information.2021-06-0224 minEspeciales KISS FMEspeciales KISS FMEntrevista - Raquel Sastre: "Risas al punto de sal"La cómica Raquel Sastre da el salto a la literatura de la mano de su hija Emma, para narrar su experiencia (y la de su familia) con el síndrome de Phelan-McDermid, una enfermedad genética que causa -entre otras cosas- discapacidad intelectual y ausencia de lenguaje.2021-06-0224 minBecause We Are StrongBecause We Are StrongINTERVIEW: Chardell & Stronger For BenWelcome back for another episode of Because We are Strong. Today we are sitting down with Chardell, a registered dietician and mother of 3. One of Chardell’s children has Phelan-McDermid Syndrome (22q13 deletion). Currently, she is helping special needs parents take better care of their families with healthy eating. Meet Chardell:Chardell Buchanan is a Registered Dietitian and mom to three children, one of whom has Phelan-McDermid Syndrome or 22q13 Deletion. Currently, she is helping special needs parents take better care of their families with healthy eating. www.chardellbuchanan.com...2021-06-0236 minFaithful with a LittleFaithful with a LittleGrieving Well with Kristen MyersWell guys, I know it's been a hot minute since the last episode, BUT I'm encouraged to bring you a new episode today called, Grieving Well with a very special gust, Kristen Myers. My plan was not to abruptly stop the podcast like I did, so I apologize for that! I was going to post a couple more episodes before taking an "Official break", but to be honest my business continues to take off, which leaves little to no time to post new content like I want in this season. Don't worry though, we will be back w...2021-05-2451 minEl Diario De VIAJEEl Diario De VIAJE"El autismo puede ser un síntoma de una enfermedad de base". Programa especial Sindrome Phelan McDermid.El síndrome de Phelan McDermid es un trastorno del neurodesarrollo de características variables y con una causa genética conocida, se considera una enfermedad rara, aunque en realidad desconocen la frecuencia con la que se presenta. La mayoría de afectados tienen síntomas de autismo y esto hace pensar que conocerlo permite no solo diagnosticar a los pacientes que lo tienen, sino también comprender mejor los mecanismos implicados en el desarrollo del autismo. Un análisis de sangre llamado Microarray descubrió la existencia de síndromes asociados con el autismo y otras patologías. Las cond...2021-04-271h 21La librería de Bego BeristainLa librería de Bego BeristainRaquel y Emma, el viaje de una madre y una hija muy especial¿Qué hace una cómica, cuyo oficio es hacer reír a la gente, cuando llega a casa y debe conseguir que su hija con trastorno autista simplemente la mire? La humorista Raquel Sastre narra en este libro tremendamente emotivo su experiencia como madre de Emma, diagnosticada al año y medio con síndrome de Phelan-McDermid, una enfermedad genética que causa discapacidad intelectual y ausencia de lenguaje. Risas al punto de sal es un relato confesional exento de dramatismo sobre cómo afrontar la adversidad desde el momento en que conoces que tu hija padece una enfermedad que la volve...2021-03-3024 minWaarheen, WaarvoorWaarheen, WaarvoorWaarheen, Waarvoor - Mariëlle Bruntink | NH RadioGast: Mariëlle Bruntink, moeder van 3 kinderen, waarvan Eva van 18 de oudste is en het Phelan-McDermid syndroom heeft. Het is een zeldzame ziekte, een erfelijk aangeboren aandoening waarbij kinderen een ontwikkelingsachterstand hebben als gevolg van het missen van een stukje van het erfelijk materiaal van chromosoom 22 . Als ervaringsdeskundige geeft Mariëlle presentaties over levend verlies. Als verpleegkundige op de afdeling verloskunde, heeft ze als aandachtsgebied de zorg voor ouders waarvan het kindje tijdens de zwangerschap of rondom de geboorte is overleden.2021-03-0947 minEl VecindarioEl VecindarioLa voz de AriHoy ha venido al Vecindario, Natalia Mendoza. Natalia no es emprendedora, sin embargo sabe muy bien lo que es ser una luchadora. En este episodio, Natalia es la voz de Ariadna, su hija de 6 años. Ari es alegre, cariñosa, es pequeña pero también es gigante. Ariadna padece el Síndrome de Phelan-McDermid, o deleción del cromosoma 22q13, es una condición genética considerada enfermedad rara. Esta semana se conmemora el día internacional de esta enfermedad y desde aquí, también les damos voz a estos pequeños y a sus familias.2020-10-2342 minRARECastRARECastAn Approach to De-Risk Rare Disease Drug DevelopmentAMO Pharma is developing drugs for a variety of rare neurologic conditions with a pipeline of experimental therapies seeking to treat Phelan-McDermid syndrome, congenital myotonic dystrophy, and Rett syndrome. The company believes it can advance therapies efficiently by acquiring molecules that have already been studied at either a preclinical or clinical stage and jump starting their development in new indications. We spoke to Michael Snape, chief scientific officer of AMO Pharma, about the company’s approach to drug development, how it selects drugs and diseases to pursue, and its lead therapeutic candidates.2020-05-2024 mintrajectory – ASF Weekly Science Podcaststrajectory – ASF Weekly Science PodcastsPsychiatric decompensation and autism: Two words you never want to hear togetherA series of three scientific articles explore the link between the onset of psychiatric symptoms in adolescence in people with Phelan McDermid Syndrome, or PMS.  PMS is caused by a mutation in the SHANK3 gene, leading to a wide range of medical, behavioral and intellectual challenges, as well as autism spectrum disorder.  Scientists used a broad literature review as well as the PMS patient registry to better describe what was going on, and a group at Duke compiled a case series of girls affected that were responsive to treatment.  While so far this decompensation as a result of onset of...2020-02-2515 minmental health – ASF Weekly Science Podcastsmental health – ASF Weekly Science PodcastsPsychiatric decompensation and autism: Two words you never want to hear togetherA series of three scientific articles explore the link between the onset of psychiatric symptoms in adolescence in people with Phelan McDermid Syndrome, or PMS.  PMS is caused by a mutation in the SHANK3 gene, leading to a wide range of medical, behavioral and intellectual challenges, as well as autism spectrum disorder.  Scientists used a broad literature review as well as the PMS patient registry to better describe what was going on, and a group at Duke compiled a case series of girls affected that were responsive to treatment.  While so far this decompensation as a result of onset of...2020-02-2515 minJefa de tu vida. El podcast de CharucaJefa de tu vida. El podcast de CharucaEp 52. Cómo comunicarte para brillar. Con Mónica Galán.Comunicarte bien es un básico para ser una Jefa de tu vida. Ya lo hacemos en nuestra vida personal y en lo profesional ni te cuento, sobre todo desde que el vídeo ha entrado con fuerza y el que más y el que menos se publica hablando en Instagram Stories o Youtube. Está demostrado de hecho, que las personas que mejor se comunican son las que tienen las mayores oportunidades personales y profesionales, por eso vale mucho la pena dedicar energía a aprender a comunicarnos mejor. Para ayudarte te he traído a este encanto de mujer...2020-02-141h 04The Guitaring ShowThe Guitaring ShowBOSS SY-1 First Look | Top 6 Sounds | TGS Picks ArriveThanks for tuning in to The Guitaring Show! This is the audio taken from our YouTube Show which you can watch here. Please subscribe to our channel!   BOSS SY-1 First Look | Top 6 Sounds BOSS SY-1 First Look | Phelan-McDermid Syndrome Awareness Day | TGS Picks Arrive #bossSY1  OK. So I may have jumped the gun creating this episode's thumbnail.  Perhaps not our Top 6 Sounds but definitely Zach's current favourite sounds. Mind you, this was only the third time he had played the SY-1.   ...2019-10-2121 minElectroshock (Radio MARCA)Electroshock (Radio MARCA)ELECTROSHOCK 3x24 (nº98) EBM VOL2 22.03.2019Esta semana nos visitan en los estudios de Radio MARCA David Peral acompañado de Stoner Dj desde Gran Reserva, Alberto Hache y Nacho Camacho desde Espacio 4 FM para hablarnos del evento benéfico que organizan el 30 de marzo para recaudar fondos a favor de la Asociación Síndrome Phelan McDermid. Arrancamos como cada día con el tema Hit Clubbin de la semana con Dj Frisco y hoy también nos visita Iñaki Villasante para la segunda entrega de Las Crónicas del EBM, en esta ocasión dedicado al grupo británico Nitzer Ebb.2019-03-231h 59Autism – ASF Weekly Science PodcastsAutism – ASF Weekly Science PodcastsCan IGF-1 treat autism symptoms? A clinical trial aims to find outA full transcript of this podcast episode can be read on the ASF blog here. Researchers at Mount Sinai led by Alex Kolevzon are running a clinical trial of the compound insulin-like growth factor 1 (IGF-1) for children with idiopathic autism. Dr. Kolevzon’s team previously demonstrated the safety and feasibility of IGF-1 in treating Phelan-McDermid syndrome, a single-gene form of autism. Particularly, the IGF-1 treatment improved symptoms of social impairment and repetitive behaviors, which are core symptoms of autism. Expanding their investigation into idiopathic autism, the researchers are working hard to make sure families can comfortably and kn...2018-09-1010 minbrainwave – ASF Weekly Science Podcastsbrainwave – ASF Weekly Science PodcastsCan IGF-1 treat autism symptoms? A clinical trial aims to find outA full transcript of this podcast episode can be read on the ASF blog here. Researchers at Mount Sinai led by Alex Kolevzon are running a clinical trial of the compound insulin-like growth factor 1 (IGF-1) for children with idiopathic autism. Dr. Kolevzon’s team previously demonstrated the safety and feasibility of IGF-1 in treating Phelan-McDermid syndrome, a single-gene form of autism. Particularly, the IGF-1 treatment improved symptoms of social impairment and repetitive behaviors, which are core symptoms of autism. Expanding their investigation into idiopathic autism, the researchers are working hard to make sure families can comfortably and kn...2018-09-1010 minAutism – ASF Weekly Science PodcastsAutism – ASF Weekly Science PodcastsPMS: it’s not what you thinkLast weekend, the Phelan McDermid Research Foundation held their biannual family conference in Dallas Texas.  People with Phelan McDermid Syndrome, or PMS, suffer from seizures and intellectual disability, and about 70% have an ASD diagnosis, Over 150 families from across the world came together to show each other support, learn about housing options, receive genetic counseling, talk to experts and hear the latest research.  ASF attended the meeting and this podcast is a short summary of what was presented by researchers at the conference.  This syndrome is caused by mutations of the SHANK3 gene, which is present in about 1% of people wit...2018-07-3000 minLove Hope and StoriesLove Hope and StoriesRain Day // Ep 2In this episode, I share a story from when our daughter was first diagnosed with Phelan-McDermid Syndrome and the potential I now see in rainy days. After you hear this short story, you’ll want to head over to Spotify to listen to our podcast playlist. This episode's ADD TO PLAYLIST: SONG: Seasons Change ARTIST: United Pursuit, Michael Ketterer ALBUM: Simple Gospel2018-06-0813 minEmprender es fácilEmprender es fácilHybs, sneakers de diseño en la semana Salón MiEmpresa #EmpF120 @EmprenderFacil con @ViaAsesoresLa noticia de la semana es la celebración de la 8ª edición Salón MiEmpresa en Madrid, con la 3ª participación como ponente de Fernando Zaplana en este que es el evento de referencia para emprendedores, empresarios y personas con inquietudes para el autoempleo Como noticia de RSC, Hefame entrega los fondos de sus carreras solidarias a la Asociación Phelan McDermid Y la Referencia corresponde a Hybs, la nueva marca de sneakers murciana, llega para quedarse y triunfar en el mercado nacional Hace menos de dos años, tres amigos con espíritu emprendedor y una cabeza llena de buenas...2017-02-2009 minLos Silencios de ElanLos Silencios de ElanPrograma 81 - Phelan McDermidEn este programa contamos con la presencia de Bárbar (madre de una niña afectada de Phelan McDermid), Daniel Ibañez (cantautor) y Marc Sanmartín parte integrante de ëlan que vienen a hablarnos de la enfermedad Phelan y del evento que tendrá lugar el próximo 10 de diciembre en el Pub El Volander. El Síndrome de Phelan-McDermid, o deleción del cromosoma 22q13, es una condición genética considerada enfermedad rara. Está causada en la mayoría de casos por la pérdida de material genético del extremo terminal del cromosoma 22. Esta pérdida se produce durante...2016-12-0552 minLos Silencios de ElanLos Silencios de ElanPrograma 27 - Phelan-McdermidEn este programa contamos con la presencia de Beatriz, representante de la asociación Phelan-Mcdermid, una enfermedad rara que afecta a menos de 100 niños en España. También vinieron Conchi ( de La Casona 1870 de Benimaclet) y Daniel Ibañez (cantautor) para hacer promoción del concierto solidario a favor de la asociación. Más info en www.lossilenciosdeelan.com(sección radio)2014-12-1053 minRadio San SebastiánRadio San SebastiánEntrevista Asociación Phelan Mcdermid EuskadiEntrevista. Asociación Phelan Mcdermid en Euskadi.2014-02-2604 minMedizin - Open Access LMU - Teil 15/22Medizin - Open Access LMU - Teil 15/22Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trialBackground: The 22q13 deletion syndrome (Phelan– McDermid syndrome) is characterised by a global developmental delay, absent or delayed speech, generalised hypotonia, autistic behaviour and characteristic phenotypic features. Intranasal insulin has been shown to improve declarative memory in healthy adult subjects and in patients with Alzheimer disease. Aims: To assess if intranasal insulin is also able to improve the developmental delay in children with 22q13 deletion syndrome. Methods: We performed exploratory clinical trials in six children with 22q13 deletion syndrome who received intranasal insulin over a period of 1 year. Short-term (during the first 6 weeks) and long-term effects (after 12 months of treatment) on...2009-01-0100 min