Rett syndrome before regression: A time window of overlooked opportunities for diagnosis and intervention.

Abstract:

:Rett syndrome (RTT) is a rare neurological disorder primarily affecting females, causing severe cognitive, social, motor and physiological impairments for which no cure currently exists. RTT clinical diagnosis is based on the peculiar progression of the disease, since patients show an apparently normal initial development with a subsequent sudden regression at around 2 years of age. Accumulating evidences are rising doubts regarding the absence of early impairments, hence questioning the concept of regression. We reviewed the published literature addressing the pre-symptomatic stage of the disease in both patients and animal models with a particular focus on behavioral, physiological and brain abnormalities. The emerging picture delineates subtle, but reliable impairments that precede the onset of overt symptoms whose bases are likely set up already during embryogenesis. Some of the outlined alterations appear transient, suggesting compensatory mechanisms to occur in the course of development. There is urgent need for more systematic developmental analyses able to detect early pathological markers to be used as diagnostic tools and precocious targets of time-specific interventions.

journal_name

Neurosci Biobehav Rev

authors

Cosentino L,Vigli D,Franchi F,Laviola G,De Filippis B

doi

10.1016/j.neubiorev.2019.05.013

subject

Has Abstract

pub_date

2019-12-01 00:00:00

pages

115-135

eissn

0149-7634

issn

1873-7528

pii

S0149-7634(18)30844-3

journal_volume

107

pub_type

杂志文章,评审
  • Altered midbrain dopaminergic neurotransmission during development in an animal model of ADHD.

    abstract::To understand the onset and the molecular mechanisms triggering dopaminergic (DA) dysregulation in Attention-Deficit Hyperactivity Disorder (ADHD), we have used the Spontaneously Hypertensive Rats (SHR), the most widely studied animal model for this disease. We have studied the pattern of expression of specific genes ...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2003.08.009

    authors: Leo D,Sorrentino E,Volpicelli F,Eyman M,Greco D,Viggiano D,di Porzio U,Perrone-Capano C

    更新日期:2003-11-01 00:00:00

  • Contributions of the prefrontal cortex to the neural basis of human decision making.

    abstract::The neural basis of decision making has been an elusive concept largely due to the many subprocesses associated with it. Recent efforts involving neuroimaging, neuropsychological studies, and animal work indicate that the prefrontal cortex plays a central role in several of these subprocesses. The frontal lobes are in...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/s0149-7634(02)00021-0

    authors: Krawczyk DC

    更新日期:2002-10-01 00:00:00

  • Functional connectivity and cholinergic modulation in auditory cortex.

    abstract::Although it is known that primary auditory cortex (A1) contributes to the processing and perception of sound, its precise functions and the underlying mechanisms are not well understood. Recent studies point to a remarkably broad spectral range of largely subthreshold inputs to individual neurons in A1--seemingly enco...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2010.11.010

    authors: Metherate R

    更新日期:2011-11-01 00:00:00

  • Implicit processing during inattentional blindness: A systematic review and meta-analysis.

    abstract::The occurrence of implicit processing of visual stimuli during inattentional blindness is still a matter of debate. To assess the evidence available in this debate, we conducted a systematic review of articles that explored whether unexpected visual stimuli presented during inattentional blindness are implicitly proce...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2020.10.005

    authors: Nobre AP,de Melo GM,Gauer G,Wagemans J

    更新日期:2020-12-01 00:00:00

  • Limbic connections to the lateral preoptic area: a horseradish peroxidase study in the rat.

    abstract::Horseradish peroxidase, 13% Sigma Type VI, was administered iontophoretically to the lateral preoptic area (LPA) of male hooded rats. Animals were perfused intracardially on the following day and brains were removed and sliced in the coronal plane into 50 microns sections. Alternate sections were processed with DAB an...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章

    doi:10.1016/0149-7634(83)90042-8

    authors: Wayner MJ,Barone FC,Scharoun SL,Guevara-Aguilar R,Aguilar-Baturoni HU

    更新日期:1983-10-01 00:00:00

  • The role of COMT gene variants in depression: Bridging neuropsychological, behavioral and clinical phenotypes.

    abstract::Depression is a common and disabling psychiatric disorder with a complex etiology, which includes predisposing risk genes and environmental stressors. Variation in the Catechol-O-Methyltransferase (COMT) gene, the Val158Met polymorphism in particular, has been extensively investigated in relation to clinical phenotype...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2013.06.006

    authors: Antypa N,Drago A,Serretti A

    更新日期:2013-09-01 00:00:00

  • A systematic review of fMRI reward paradigms used in studies of adolescents vs. adults: the impact of task design and implications for understanding neurodevelopment.

    abstract::The neural systems underlying reward-related behaviors across development have recently generated a great amount of interest. Yet, the neurodevelopmental literature on reward processing is marked by inconsistencies due to the heterogeneity of the reward paradigms used, the complexity of the behaviors being studied, an...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章

    doi:10.1016/j.neubiorev.2013.03.004

    authors: Richards JM,Plate RC,Ernst M

    更新日期:2013-06-01 00:00:00

  • Pharmacological inhibition of FAAH activity in rodents: A promising pharmacological approach for psychological-cardiac comorbidity?

    abstract::Numerous studies have documented a link between psychological disorders and cardiac disease. Yet, no systematic attempts have been made to develop pharmacological approaches for mood and anxiety disorders that could also be beneficial for cardiac health. The endocannabinoid system has been implicated in the regulation...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2016.04.013

    authors: Carnevali L,Rivara S,Nalivaiko E,Thayer JF,Vacondio F,Mor M,Sgoifo A

    更新日期:2017-03-01 00:00:00

  • Foreign language training as cognitive therapy for age-related cognitive decline: a hypothesis for future research.

    abstract::Over the next fifty years, the number of older adults is set to reach record levels. Protecting older adults from the age-related effects of cognitive decline is one of the greatest challenges of the next few decades as it places increasing pressure on families, health systems, and economies on a global scale. The dis...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2013.09.004

    authors: Antoniou M,Gunasekera GM,Wong PC

    更新日期:2013-12-01 00:00:00

  • Commentary on the special issue on the adolescent brain: Adolescence, trajectories, and the importance of prevention.

    abstract::Adolescence as highlighted in this special issue is a period of tremendous growth, synaptic exuberance, and plasticity, but also a period for the emergence of mental illness and addiction. This commentary aims to stimulate research on prevention science to reduce the impact of early life events that often manifest dur...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章

    doi:10.1016/j.neubiorev.2016.07.012

    authors: Andersen SL

    更新日期:2016-11-01 00:00:00

  • Serotonergic mechanisms in neuroleptic-induced catalepsy in the rat.

    abstract::The present paper reviews a series of experiments aimed at elucidating the interaction between specific dopamine (DA) and 5-hydroxytryptamine (5-HT) receptors in the mediation of extrapyramidal motor functions in the rat. There is strong evidence to suggest that (1) the catalepsy produced by dopamine D1 or D2 receptor...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/0149-7634(95)00057-7

    authors: Wadenberg ML

    更新日期:1996-07-01 00:00:00

  • Complexity of olfactory lateralization processes revealed by functional imaging: a review.

    abstract::Currently available techniques used in neurosciences and particularly cerebral imaging are contributing to a better understanding of human perception and the treatment of sensorial information. In this field, the chemical senses (taste and smell) have received little attention when compared with the auditory, visual a...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/s0149-7634(01)00005-7

    authors: Brand G,Millot JL,Henquell D

    更新日期:2001-03-01 00:00:00

  • A mnemonic role for vasopressin: the evidence for and against.

    abstract::This review critically evaluates the animal and human research concerning vasopressin's putative mnemonic role. Weaknesses in the interpretations of the early animal experiments as well as the implications of the later inconsistent findings are discussed. It is concluded that both the initial enthusiasm and the subseq...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/0149-7634(85)90018-1

    authors: Strupp BJ,Levitsky DA

    更新日期:1985-10-01 00:00:00

  • Dopamine receptor supersensitivity.

    abstract::Dopamine (DA) receptor supersensitivity refers to the phenomenon of an enhanced physiological, behavioral or biochemical response to a DA agonist. Literature related to ontogenetic aspects of this process was reviewed. Neonatal 6-hydroxydopamine (6-OHDA) destruction of rat brain DA neurons produces overt sensitization...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/0149-7634(94)00019-w

    authors: Kostrzewa RM

    更新日期:1995-04-01 00:00:00

  • Stress and Alzheimer's disease: A senescence link?

    abstract::Chronic stress has been shown to promote numerous aging-related diseases, and to accelerate the aging process itself. Of particular interest is the impact of stress on Alzheimer's disease (AD), the most prevalent form of dementia. The vast majority of AD cases have no known genetic cause, making it vital to identify t...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2020.05.010

    authors: Lyons CE,Bartolomucci A

    更新日期:2020-08-01 00:00:00

  • The puzzling question of inhibitory control in Tourette syndrome: A meta-analysis.

    abstract::Tourette syndrome (TS) is a neuropsychiatric disorder involving motor and phonic tics. Inhibitory control is a key issue in TS, and many disruptive or impulsive behaviors might arise from inhibitory deficits. However, conflicting findings regarding TS patients' inhibitory performance in neuropsychological tasks have b...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,meta分析,评审

    doi:10.1016/j.neubiorev.2017.05.006

    authors: Morand-Beaulieu S,Grot S,Lavoie J,Leclerc JB,Luck D,Lavoie ME

    更新日期:2017-09-01 00:00:00

  • Meta-analysis of cognitive ability differences by apolipoprotein e genotype in young humans.

    abstract::The apolipoprotein (APOE) ε4 allele has been proposed as an example of an antagonistic pleiotropy gene, conferring a beneficial effect on cognition in early life and a detrimental impact on cognition during later years. However, findings on the cognitive associations of the ε4 allele in younger persons are mixed. This...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,meta分析

    doi:10.1016/j.neubiorev.2018.08.009

    authors: Weissberger GH,Nation DA,Nguyen CP,Bondi MW,Han SD

    更新日期:2018-11-01 00:00:00

  • The multiple process model of goal-directed reaching revisited.

    abstract::Recently our group forwarded a model of speed-accuracy relations in goal-directed reaching. A fundamental feature of our multiple process model was the distinction between two types of online regulation: impulse control and limb-target control. Impulse control begins during the initial stages of the movement trajector...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2016.11.016

    authors: Elliott D,Lyons J,Hayes SJ,Burkitt JJ,Roberts JW,Grierson LE,Hansen S,Bennett SJ

    更新日期:2017-01-01 00:00:00

  • Reproduction and the renin-angiotensin system.

    abstract::A unique aspect of the circulating renin-angiotensin system and the many independent tissue renin-angiotensin systems is their interactions at multiple levels with reproduction. These interactions, which have received relatively little attention, include effects of estrogens and possibly androgens on hepatic and renal...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/0149-7634(94)00056-7

    authors: Ganong WF

    更新日期:1995-07-01 00:00:00

  • Corticospinal activity during dual tasking: a systematic review and meta-analysis of TMS literature from 1995 to 2013.

    abstract::This systematic review and meta-analysis was conducted across studies using transcranial magnetic stimulation to investigate corticospinal excitability and inhibition in response to a dual task (DT). Quantitative analysis was performed on eleven controlled studies that had included healthy participants over the age of...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,meta分析,评审

    doi:10.1016/j.neubiorev.2014.03.017

    authors: Corp DT,Lum JA,Tooley GA,Pearce AJ

    更新日期:2014-06-01 00:00:00

  • Non-invasive brain stimulation in Parkinson's disease: Exploiting crossroads of cognition and mood.

    abstract::Cognitive impairments and depression are common non-motor manifestations in Parkinson's disease (PD). Recent evidence suggests that both partially arise via the same frontostriatal network, opening the opportunity for concomitant treatment with non-invasive brain stimulation (NIBS) techniques such as repetitive transc...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2017.01.021

    authors: Dinkelbach L,Brambilla M,Manenti R,Brem AK

    更新日期:2017-04-01 00:00:00

  • A comparative approach to affect and cooperation.

    abstract::A central premise of the science of comparative affect is that we can best learn about the causes and consequences of affect by comparing affective phenomena across a variety of species, including humans. We take as a given that affect is widely shared across animals, but a key challenge is to accurately represent eac...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2019.09.027

    authors: Massen JJM,Behrens F,Martin JS,Stocker M,Brosnan SF

    更新日期:2019-12-01 00:00:00

  • The genetic basis of Gilles de la Tourette Syndrome.

    abstract::Gilles de la Tourette Syndrome (TS) is a neuropsychiatric disorder that is caused by a likely complex genetic basis, interacting with environmental factors. Just as multiple large scale collaborative projects for TS are starting out and the first ever genomewide association study for TS has been published, this review...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2013.01.016

    authors: Paschou P

    更新日期:2013-07-01 00:00:00

  • Differential nicotinic regulation of the nigrostriatal and mesolimbic dopaminergic pathways: implications for drug development.

    abstract::Neuronal nicotinic acetylcholine receptors (nAChRs) modulate dopaminergic function. Discovery of their multiplicity has lead to the search for subtype-selective nAChR agonists that might be therapeutically beneficial in diseases linked to brain dopaminergic pathways. The regulation and responses of the nigrostriatal a...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2006.09.008

    authors: Janhunen S,Ahtee L

    更新日期:2007-01-01 00:00:00

  • Differential effects of novel ligands for 5-HT receptor subtypes on nonopioid defensive analgesia in male mice.

    abstract::The effects of a number of 5-HT receptor ligands were examined on nonopioid defensive analgesia in male DBA/2 mice. MDL 73005EF (0.05-1.0 mg/kg), a selective 5-HT1A receptor agonist, potently and dose-dependently inhibited the analgesic consequences of social defeat. CGS 12066B (0.5-10.0 mg/kg) and MK-212 (0.3-10.0 mg...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章

    doi:10.1016/s0149-7634(05)80137-x

    authors: Rodgers RJ,Shepherd JK,Donát P

    更新日期:1991-01-01 00:00:00

  • Life stages and risk-avoidance: status- and context-sensitivity in precaution systems.

    abstract::Human typical life history involves specific tradeoffs, resulting in the selection of specific cognitive adaptations, among which a suite of age- and gender-specific precaution systems sensitive to variations in the physical and social environment. Precaution systems take into account the individual's status and life-...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2010.09.007

    authors: Lienard P

    更新日期:2011-03-01 00:00:00

  • Pancreatic glucagon signals postprandial satiety.

    abstract::The hypothesis that prandial increases in circulating pancreatic glucagon initiates an important peripheral satiety signal is reviewed. Glucagon administration at the beginning of meals reduces the size of test meals in animals and humans and reduces the size of spontaneous meals in rats. Exogenous glucagon may also i...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/s0149-7634(05)80042-9

    authors: Geary N

    更新日期:1990-10-01 00:00:00

  • Do essential fatty acids play a role in brain and behavioral development?

    abstract::The membrane phospholipids of the brain contain high levels of polyunsaturated fatty acids (PUFA), particularly arachidonic acid, 20:4n-6 and docosahexaenoic acid, 22:6n-3. These long-chain PUFA are synthesized from their respective essential fatty acid (EFA) precursors, linoleic acid, 18:2n-6 and linolenic acid, 18:3...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/s0149-7634(05)80180-0

    authors: Wainwright PE

    更新日期:1992-07-01 00:00:00

  • Do bacteria shape our development? Crosstalk between intestinal microbiota and HPA axis.

    abstract::The human body contains as many bacteria in the intestine as the total number of human body cells. These bacteria have a central position in human health and disease, and would also play a role in the regulation of emotions, behavior, and even higher cognitive functions. The Hypothalamic-Pituitary-Adrenal axis (HPA ax...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/j.neubiorev.2017.09.016

    authors: de Weerth C

    更新日期:2017-12-01 00:00:00

  • A large outdoor radial maze for comparative studies in birds and mammals.

    abstract::For a comparative neurobiological analysis of spatial learning and memory, a large outdoor eight-arm radial maze was constructed which permits behavioral assessment of many avian and mammalian species both from the laboratory or the wild, using the same metric space and session schedules. It consists of a central part...

    journal_title:Neuroscience and biobehavioral reviews

    pub_type: 杂志文章,评审

    doi:10.1016/s0149-7634(00)00050-6

    authors: Lipp HP,Pleskacheva MG,Gossweiler H,Ricceri L,Smirnova AA,Garin NN,Perepiolkina OP,Voronkov DN,Kuptsov PA,Dell'Omo G

    更新日期:2001-01-01 00:00:00