apnea has been researched along with Rett Syndrome in 28 studies
Apnea: A transient absence of spontaneous respiration.
Rett Syndrome: An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
| Excerpt | Relevance | Reference |
|---|---|---|
| " In vivo, acute treatment of Mecp2-null and -heterozygous mutants with LM22A-4 completely eliminated spontaneous apneas in resting animals, without sedation." | 7.80 | A BDNF loop-domain mimetic acutely reverses spontaneous apneas and respiratory abnormalities during behavioral arousal in a mouse model of Rett syndrome. ( Adams, IT; Katz, DM; Kron, M; Lang, M; Longo, F; Sceniak, M, 2014) |
| " An 18-year-old woman (150 cm in height and 29 kg in weight) had been diagnosed with RTT and showed myotonic trismus, frequent attacks of apnea, mental retardation, spastic paraplegia, scoliosis, and microcephalus with micrognathia." | 7.78 | [Anesthetic management of a patient with Rett syndrome associated with trismus and apnea attacks]. ( Fukugasako, H; Ito, A; Ito, T; Kameyama, N; Kawasaki, E; Mishima, Y; Takaseya, H; Ushijima, K, 2012) |
| " We present a patient whose severe hyperventilation and apneic attacks resolved with the concomitant treatment of fluoxetine and buspirone." | 7.78 | Use of buspirone and fluoxetine for breathing problems in Rett syndrome. ( Ardıç, UA; Gökben, S; Serdaroğlu, G, 2012) |
| "Rett syndrome is a neurodevelopmental disease due to Mecp2 gene mutations that is associated to complex neurological symptoms, with bioaminergic deficits and life-threatening apneas related to sudden and unexpected death." | 7.74 | Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model. ( Dutschmann, M; Hilaire, G; Lajard, AM; Mebarek, S; Picard, N; Zanella, S, 2008) |
| " Seven of the 21 patients with Rett syndrome compared with none of the control patients experienced a serious adverse event, most of which were due to prolonged apnea (P = ." | 7.73 | Deep sedation with propofol in patients with Rett syndrome. ( Buckmaster, MA; Callans, BH; Islam, MP; Percy, AK; Tofil, NM; Winkler, MK, 2006) |
| "We reported a 6-year-old girl with Rett syndrome with severe apnea attacks following hyperventilation during wakefulness for which oral diazepam, 1." | 7.71 | [Effect of diazepam on apnea attacks in a 6-year-old girl with Rett syndrome: a polysomnographic study]. ( Kumagai, K; Kurihara, M; Nakae, Y, 2001) |
| "Rett syndrome (RTT) is a neurodevelopmental disorder that is characterized by developmental regression, loss of communicative ability, stereotyped hand wringing, cognitive impairment, and central apneas, among many other symptoms." | 4.12 | Clinical and Preclinical Evidence for M ( Arthur, B; Cikowski, J; Fisher, NM; Gogliotti, RG; Gonzalez, S; Holt, C; Lindsley, CW; Niswender, CM; Smith, M; Vermudez, SAD, 2022) |
| " The latter included motor coordination and balance, acoustic and visual responses, hindlimb clasping, and apnea in expiration." | 3.91 | ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome. ( Hanania, T; Kaufmann, WE; Klamer, D; Missling, CU; Rebowe, N; Sprouse, J, 2019) |
| "Rett syndrome (RTT) is a severe neurodevelopmental disorder that can cause pervasive wakeful respiratory disturbances that include tachypnea, breath-holding, and central apnea." | 3.85 | Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine. ( Kaufmann, WE; Mayor, JM; O'Leary, HM; Sahin, M, 2017) |
| " Breathing frequency variation and central apnea in a group of Mecp2(+/-) females displayed a distribution pattern similar to Mecp2(-/Y) males, while the rest resembled the wild-type mice." | 3.81 | Breathing abnormalities in a female mouse model of Rett syndrome. ( Cui, N; Jiang, C; Johnson, CM; Oginsky, MF; Zhong, W, 2015) |
| " In vivo, acute treatment of Mecp2-null and -heterozygous mutants with LM22A-4 completely eliminated spontaneous apneas in resting animals, without sedation." | 3.80 | A BDNF loop-domain mimetic acutely reverses spontaneous apneas and respiratory abnormalities during behavioral arousal in a mouse model of Rett syndrome. ( Adams, IT; Katz, DM; Kron, M; Lang, M; Longo, F; Sceniak, M, 2014) |
| " A prominent feature of the syndrome is disturbances in respiration characterized by frequent apnea and an irregular interbreath cycle." | 3.79 | A selective 5-HT1a receptor agonist improves respiration in a mouse model of Rett syndrome. ( Bissonnette, JM; Hunnicutt, BJ; Knopp, SJ; Levitt, ES; Williams, JT, 2013) |
| " An 18-year-old woman (150 cm in height and 29 kg in weight) had been diagnosed with RTT and showed myotonic trismus, frequent attacks of apnea, mental retardation, spastic paraplegia, scoliosis, and microcephalus with micrognathia." | 3.78 | [Anesthetic management of a patient with Rett syndrome associated with trismus and apnea attacks]. ( Fukugasako, H; Ito, A; Ito, T; Kameyama, N; Kawasaki, E; Mishima, Y; Takaseya, H; Ushijima, K, 2012) |
| " We present a patient whose severe hyperventilation and apneic attacks resolved with the concomitant treatment of fluoxetine and buspirone." | 3.78 | Use of buspirone and fluoxetine for breathing problems in Rett syndrome. ( Ardıç, UA; Gökben, S; Serdaroğlu, G, 2012) |
| " A major debilitating phenotype in affected females is frequent apneas, and heterozygous Mecp2-deficient female mice mimic the human respiratory disorder." | 3.76 | Correction of respiratory disorders in a mouse model of Rett syndrome. ( Abdala, AP; Bissonnette, JM; Dutschmann, M; Paton, JF, 2010) |
| "Rett syndrome is a neurodevelopmental disease due to Mecp2 gene mutations that is associated to complex neurological symptoms, with bioaminergic deficits and life-threatening apneas related to sudden and unexpected death." | 3.74 | Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model. ( Dutschmann, M; Hilaire, G; Lajard, AM; Mebarek, S; Picard, N; Zanella, S, 2008) |
| " All subjects manifested apnea, shallow breathing, or hypoventilation, when awake and during sleep." | 3.74 | Disturbances in cardiorespiratory function during day and night in Rett syndrome. ( Albåge, M; Eriksson, M; Fernell, E; Katz-Salamon, M; Lagercrantz, H; Rohdin, M, 2007) |
| " Seven of the 21 patients with Rett syndrome compared with none of the control patients experienced a serious adverse event, most of which were due to prolonged apnea (P = ." | 3.73 | Deep sedation with propofol in patients with Rett syndrome. ( Buckmaster, MA; Callans, BH; Islam, MP; Percy, AK; Tofil, NM; Winkler, MK, 2006) |
| "We reported a 6-year-old girl with Rett syndrome with severe apnea attacks following hyperventilation during wakefulness for which oral diazepam, 1." | 3.71 | [Effect of diazepam on apnea attacks in a 6-year-old girl with Rett syndrome: a polysomnographic study]. ( Kumagai, K; Kurihara, M; Nakae, Y, 2001) |
| ", episodes of hyperventilation followed by central apnea and desaturation)." | 3.69 | Polysomnographic characteristics of patients with Rett syndrome. ( Carroll, JL; Curtis, S; Loughlin, GM; Marcus, CL; McColley, SA; Naidu, S; Pyzik, P, 1994) |
| "Rett syndrome is a neurodevelopmental disease accompanied by complex, disabling symptoms, including breathing symptoms." | 1.36 | Early abnormalities of post-sigh breathing in a mouse model of Rett syndrome. ( Dutschmann, M; Hilaire, G; Lajard, AM; Menuet, C; Voituron, N; Zanella, S, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 7 (25.00) | 18.2507 |
| 2000's | 5 (17.86) | 29.6817 |
| 2010's | 13 (46.43) | 24.3611 |
| 2020's | 3 (10.71) | 2.80 |
| Authors | Studies |
|---|---|
| Smith, M | 1 |
| Arthur, B | 1 |
| Cikowski, J | 1 |
| Holt, C | 1 |
| Gonzalez, S | 1 |
| Fisher, NM | 2 |
| Vermudez, SAD | 1 |
| Lindsley, CW | 2 |
| Niswender, CM | 2 |
| Gogliotti, RG | 2 |
| Cheng, H | 1 |
| Charles, I | 1 |
| James, AF | 1 |
| Abdala, AP | 2 |
| Hancox, JC | 1 |
| Hoshi, M | 1 |
| Ishiyama, M | 1 |
| Wada, T | 1 |
| Hase, K | 1 |
| Itoh, M | 1 |
| Kikuiri, T | 1 |
| Shirakawa, T | 1 |
| Kaufmann, WE | 2 |
| Sprouse, J | 1 |
| Rebowe, N | 1 |
| Hanania, T | 1 |
| Klamer, D | 1 |
| Missling, CU | 1 |
| Na, ES | 1 |
| De Jesús-Cortés, H | 1 |
| Martinez-Rivera, A | 1 |
| Kabir, ZD | 1 |
| Wang, J | 1 |
| Ramesh, V | 1 |
| Onder, Y | 1 |
| Rajadhyaksha, AM | 1 |
| Monteggia, LM | 1 |
| Pieper, AA | 1 |
| Senter, RK | 1 |
| Adams, J | 1 |
| Zamorano, R | 1 |
| Walker, AG | 1 |
| Blobaum, AL | 1 |
| Engers, DW | 1 |
| Hopkins, CR | 1 |
| Daniels, JS | 1 |
| Jones, CK | 1 |
| Xiang, Z | 1 |
| Conn, PJ | 1 |
| O'Leary, HM | 1 |
| Mayor, JM | 1 |
| Sahin, M | 1 |
| Levitt, ES | 1 |
| Hunnicutt, BJ | 1 |
| Knopp, SJ | 1 |
| Williams, JT | 1 |
| Bissonnette, JM | 2 |
| Kron, M | 1 |
| Lang, M | 1 |
| Adams, IT | 1 |
| Sceniak, M | 1 |
| Longo, F | 1 |
| Katz, DM | 1 |
| Johnson, CM | 1 |
| Cui, N | 1 |
| Zhong, W | 1 |
| Oginsky, MF | 1 |
| Jiang, C | 1 |
| Matagne, V | 1 |
| Ehinger, Y | 1 |
| Saidi, L | 1 |
| Borges-Correia, A | 1 |
| Barkats, M | 1 |
| Bartoli, M | 1 |
| Villard, L | 1 |
| Roux, JC | 1 |
| Voituron, N | 1 |
| Zanella, S | 2 |
| Menuet, C | 1 |
| Lajard, AM | 2 |
| Dutschmann, M | 3 |
| Hilaire, G | 2 |
| Paton, JF | 1 |
| Kawasaki, E | 1 |
| Mishima, Y | 1 |
| Ito, T | 1 |
| Ito, A | 1 |
| Takaseya, H | 1 |
| Kameyama, N | 1 |
| Fukugasako, H | 1 |
| Ushijima, K | 1 |
| Gökben, S | 1 |
| Ardıç, UA | 1 |
| Serdaroğlu, G | 1 |
| Falsaperla, R | 1 |
| Pavone, L | 1 |
| Fichera, M | 1 |
| Striano, P | 1 |
| Pavone, P | 1 |
| Tofil, NM | 1 |
| Buckmaster, MA | 1 |
| Winkler, MK | 1 |
| Callans, BH | 1 |
| Islam, MP | 1 |
| Percy, AK | 1 |
| Mebarek, S | 1 |
| Picard, N | 1 |
| Rohdin, M | 1 |
| Fernell, E | 1 |
| Eriksson, M | 1 |
| Albåge, M | 1 |
| Lagercrantz, H | 1 |
| Katz-Salamon, M | 1 |
| Marcus, CL | 1 |
| Carroll, JL | 1 |
| McColley, SA | 1 |
| Loughlin, GM | 1 |
| Curtis, S | 1 |
| Pyzik, P | 1 |
| Naidu, S | 1 |
| Woodyatt, GC | 1 |
| Murdoch, BE | 1 |
| Morton, RE | 2 |
| Bonas, R | 1 |
| Minford, J | 1 |
| Tarrant, SC | 1 |
| Ellis, RE | 2 |
| Cameron, FJ | 1 |
| Hawkins, KC | 1 |
| Khadilkar, VV | 1 |
| Tasker, RC | 1 |
| Preece, MA | 1 |
| Julu, PO | 1 |
| Kerr, AM | 1 |
| Hansen, S | 1 |
| Apartopoulos, F | 1 |
| Jamal, GA | 1 |
| Pinnington, L | 1 |
| Kurihara, M | 1 |
| Kumagai, K | 1 |
| Nakae, Y | 1 |
| Elian, M | 1 |
| Rudolf, ND | 1 |
| Kerr, A | 1 |
| Southall, D | 1 |
| Amos, P | 1 |
| Cooper, R | 1 |
| Samuels, M | 1 |
| Mitchell, J | 1 |
| Stephenson, J | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| A Randomised, Double-Blind, Placebo-Controlled 6-month Study to Evaluate the Efficacy, Safety, and Tolerability of Sarizotan in Patients With Rett Syndrome With Respiratory Symptoms[NCT02790034] | Phase 2/Phase 3 | 129 participants (Actual) | Interventional | 2016-10-26 | Terminated (stopped due to The study did not demonstrate evidence of efficacy on the primary or secondary efficacy variables) | ||
| [NCT00004807] | 120 participants | Interventional | 1995-01-31 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
"Caregiver-rated Impression of Change (CIC): 7-point scale requiring the caregiver to rate how much the patient's illness has improved or worsened relative to the baseline state.~7-point Likert-type scale for which ratings range from 1 = very much improved to 7 = very much worse, with 4 = no change. This caregiver-rated measure considered activities, behavior, mood and functioning. This rating was performed in consultation with the study Investigator but was based largely on the caregivers' evaluation during the reporting period. The single rating of the CIC was to be based on changes in the following domains: • Activities (watching TV, interest in conversations around her, cooperation during toileting, dressing/bathing, etc.), • Communication (verbal or by eye movements, hand movements, or head movements), • Behavior (agitation, refusal to feed, scratching, social avoidance), • Participation in family/outdoor/social events)" (NCT02790034)
Timeframe: 24 weeks
| Intervention | score on a scale (Mean) |
|---|---|
| Sarizotan Low Dose | 3.6 |
| Sarizotan High Dose | 3.5 |
| Placebo | 3.4 |
Measured as the percent change in the number of apnea episodes per hour during awake time, calculated using an ambulatory data acquisition system (BioRadioTM) as part of home monitoring procedure. BioRadioTM record specific respiratory and cardiac parameters. (NCT02790034)
Timeframe: Baseline up to week 24
| Intervention | % of change in mean counts per hr (Least Squares Mean) |
|---|---|
| Sarizotan Low Dose | 1.54 |
| Sarizotan High Dose | 13.211 |
| Placebo | 18.503 |
1 trial available for apnea and Rett Syndrome
| Article | Year |
|---|---|
Respiration patterns during feeding in Rett syndrome.
Topics: Adolescent; Adult; Apnea; Child; Child, Preschool; Deglutition; Feeding and Eating Disorders of Chil | 1997 |
27 other studies available for apnea and Rett Syndrome
| Article | Year |
|---|---|
Clinical and Preclinical Evidence for M
Topics: Animals; Apnea; Chromatin; Glycogen Synthase Kinase 3 beta; Methyl-CpG-Binding Protein 2; Mice; Mice | 2022 |
QT
Topics: Action Potentials; Animals; Apnea; Disease Models, Animal; Female; Long QT Syndrome; Methyl-CpG-Bind | 2022 |
Alteration of monoaminergic systems in the caudal medulla and its possible link to diurnal increase of apnea in a mouse model of Rett syndrome.
Topics: Animals; Apnea; Disease Models, Animal; Mice; Mice, Knockout; Respiration; Rett Syndrome; RNA, Messe | 2023 |
ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome.
Topics: Animals; Apnea; Body Weight; Disease Models, Animal; Female; Furans; Methyl-CpG-Binding Protein 2; M | 2019 |
D-cycloserine improves synaptic transmission in an animal model of Rett syndrome.
Topics: Animals; Apnea; Brain Stem; Brain-Derived Neurotrophic Factor; Corpus Striatum; Cycloserine; Disease | 2017 |
mGlu
Topics: Animals; Apnea; Autopsy; CA1 Region, Hippocampal; Cognition; Disease Models, Animal; Dose-Response R | 2017 |
Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine.
Topics: Apnea; Humans; Methyl-CpG-Binding Protein 2; Rett Syndrome | 2017 |
A selective 5-HT1a receptor agonist improves respiration in a mouse model of Rett syndrome.
Topics: Action Potentials; Animals; Apnea; Brain; Disease Models, Animal; Female; G Protein-Coupled Inwardly | 2013 |
A BDNF loop-domain mimetic acutely reverses spontaneous apneas and respiratory abnormalities during behavioral arousal in a mouse model of Rett syndrome.
Topics: Animals; Apnea; Brain-Derived Neurotrophic Factor; Carbazoles; Disease Models, Animal; Humans; Indol | 2014 |
Breathing abnormalities in a female mouse model of Rett syndrome.
Topics: Administration, Inhalation; Age Factors; Animals; Apnea; Carbon Dioxide; Disease Models, Animal; Fem | 2015 |
A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome.
Topics: Amines; Animals; Apnea; Codon; Cyclohexanecarboxylic Acids; Dependovirus; Disease Models, Animal; Di | 2017 |
Early abnormalities of post-sigh breathing in a mouse model of Rett syndrome.
Topics: Age Factors; Animals; Animals, Newborn; Apnea; Disease Models, Animal; Hypercalcemia; Hypoxia; Male; | 2010 |
Correction of respiratory disorders in a mouse model of Rett syndrome.
Topics: Animals; Apnea; Disease Models, Animal; Female; GABA Antagonists; gamma-Aminobutyric Acid; Male; Met | 2010 |
[Anesthetic management of a patient with Rett syndrome associated with trismus and apnea attacks].
Topics: Adolescent; Anesthesia, General; Apnea; Consciousness Monitors; Female; Fundoplication; Gastrostomy; | 2012 |
Use of buspirone and fluoxetine for breathing problems in Rett syndrome.
Topics: Apnea; Buspirone; Child; Female; Fluoxetine; Humans; Hyperventilation; Rett Syndrome; Selective Sero | 2012 |
Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.
Topics: Apnea; Electroencephalography; Gastroesophageal Reflux; Genetic Testing; Humans; Infant; Male; Methy | 2012 |
Deep sedation with propofol in patients with Rett syndrome.
Topics: Anesthetics, Intravenous; Apnea; Case-Control Studies; Child; Conscious Sedation; Female; Humans; Pr | 2006 |
Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model.
Topics: Animals; Antidepressive Agents, Tricyclic; Apnea; Desipramine; Female; Locomotion; Longevity; Medull | 2008 |
Disturbances in cardiorespiratory function during day and night in Rett syndrome.
Topics: Adolescent; Adult; Apnea; Child; Female; Heart Diseases; Heart Function Tests; Heart Rate; Humans; P | 2007 |
Polysomnographic characteristics of patients with Rett syndrome.
Topics: Adolescent; Adult; Apnea; Case-Control Studies; Child; Child, Preschool; Female; Humans; Hyperventil | 1994 |
The effect of the presentation of visual and auditory stimuli on the breathing patterns of two girls with Rett syndrome.
Topics: Acoustic Stimulation; Apnea; Arousal; Attention; Auditory Perception; Brain Stem; Cerebral Cortex; C | 1996 |
Insulin-dependent diabetes mellitus presenting with ketoalkalosis in Rett syndrome.
Topics: Alkalosis; Apnea; Bicarbonates; Carbon Dioxide; Child; Diabetes Mellitus, Type 1; Diabetic Ketoacido | 1997 |
Functional evidence of brain stem immaturity in Rett syndrome.
Topics: Adolescent; Apnea; Autonomic Nervous System; Blood Pressure; Brain Stem; Child; Child, Preschool; Fe | 1997 |
Air swallowing in Rett syndrome.
Topics: Adolescent; Adult; Aerophagy; Apnea; Child; Child, Preschool; Feeding Behavior; Female; Fluoroscopy; | 2000 |
[Effect of diazepam on apnea attacks in a 6-year-old girl with Rett syndrome: a polysomnographic study].
Topics: Anti-Anxiety Agents; Apnea; Child; Diazepam; Female; Humans; Polysomnography; Pulmonary Ventilation; | 2001 |
EEG and respiration in Rett syndrome.
Topics: Adolescent; Apnea; Arousal; Cerebral Cortex; Child; Child, Preschool; Electroencephalography; Evoked | 1991 |
Correlation of electroencephalogram, respiration and movement in the Rett syndrome.
Topics: Adolescent; Apnea; Brain; Child; Female; Humans; Hyperventilation; Movement Disorders; Respiration D | 1990 |