Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Hypoactivity is an inhibition of behavioral or locomotor activity.
Hypoactivity is a characteristic effect of sedative agents and many centrally acting anesthetics. Other drugs such as antipsychotics and mCPP also produce this effect, often as a side effect.
It may be a characteristic symptom of the inattentive type of ADHD (ADHD-PI) and sluggish cognitive tempo.
Additionally, requirements for a proposed diagnosis such as the number and duration of symptoms and the impact on functioning are continuing to be investigated. But there is no doubt that both ADHD and SCT are found in children and adults and are linked to significant impairment and a diminished quality of life (QoL). The research by Barkley suggests that this is especially true if ADHD and SCT occur together: In adults, those comorbid cases were more likely to be unmarried and to be out of work on disability compared to cases with ADHD alone. But SCT alone is also present in the population and can be quite impairing in educational and occupational settings, even if it is not as pervasively impairing as ADHD.
ADHD is the only disorder of attention currently defined by the DSM-5 or ICD-10. Formal diagnosis is made by a qualified professional, and includes demonstrating six or more symptoms of inattention, hyperactivity and impulsivity, or both. This results in three types of ADHD:
- a predominantly inattentive presentation (ADHD-I)
- a predominantly hyperactive-impulsive presentation (ADHD-HI)
- a combined presentation (ADHD-C)
The symptoms must also be inappropriate and must interfere with social, school, or work functioning, in addition to meeting multiple other diagnostic requirements. The symptoms used in the diagnosis are shown below.
SCT is proposed to be a similar disorder to the predominantly inattentive presentation (ADHD-I), but, as discussed later, importantly distinct from it. One problem is that some individuals who actually have SCT are now mistakenly diagnosed with the inattentive presentation. The list of symptoms that follows is from leading researchers of SCT, however, no universally accepted set of symptoms has been developed since this symptom cluster has not yet been recognized as an independent disorder.
Blocq's disease was first considered by Paul Blocq (1860–1896), who described this phenomenon as the loss of memory of specialized movements causing the inability to maintain an upright posture, despite normal function of the legs in the bed. The patient is able to stand up, but as soon as the feet are on the ground, the patient cannot hold himself upright nor walk; however when lying down, the subject conserved the integrity of muscular force and the precision of movements of the lower limbs. The motivation of this study came when a fellow student Georges Marinesco (1864) and Paul published a case of parkinsonian tremor (1893) due to a tumor located in the substantia nigra.
In the third paper published by Paul Blocq, he was trying to determine the neurophysiology behind this disease by relating the cerebral cortex (the decision making) and the spinal cord (the decision executer). His hypothesis was that there would exist an inhibitory influence which exerted and influenced the cortical or spinal centers for standing and walking.
OCD can present with a wide variety of symptoms. Certain groups of symptoms typically occur together. These groups are sometimes viewed as dimensions or clusters that may reflect an underlying process. The standard assessment tool for OCD, the Yale–Brown Obsessive Compulsive Scale (Y-BOCS), has 13 predefined categories of symptoms. These symptoms fit into three to five groupings. A meta analytic review of symptom structures found a four factor structure(grouping) to be most reliable. The observed groups included a "symmetry factor", a "forbidden thoughts factor", a "cleaning factor" and a "hoarding factor". The "symmetry factor" correlated highly with obsessions related to ordering, counting, symmetry as well as repeating compulsions. The "forbidden thoughts factor" correlated highly with intrusive and distressing thoughts of a violent, religious or sexual nature. The "cleaning factor" correlated highly with obsessions about contamination and compulsions related to cleaning. The "hoarding factor" only involved hoarding related obsessions and compulsions, and was identified as being distinct from other symptom groupings.
While OCD has been considered a homogenous disorder from a neuropsychological perspective, many of the putative neuropsychological deficits may be due to comorbid disorders. Furthermore, some subtypes have been associated with improvement in performance on certain tasks such as pattern recognition(washing subtype) and spatial working memory(obsessive thought subtype). Subgroups have also been distinguished by neuroimaging findings and treatment response. Neuroimaging studies on this have been too few, and the subtypes examined have differed too much to draw any conclusions. On the other hand, subtype dependent treatment response has been studied, and the hoarding subtype has consistently responded least to treatment.
A 2013 meta-analysis confirmed people with OCD to have mild but wide-ranging cognitive deficits; significantly regarding spatial memory, to a lesser extent with verbal memory, fluency, executive function and processing speed, while auditory attention was not significantly affected. People with OCD show impairment in formulating an organizational strategy for coding information, set-shifting, motor and cognitive inhibition.
Individuals with schizophrenia may experience hallucinations (most reported are hearing voices), delusions (often bizarre or persecutory in nature), and disorganized thinking and speech. The last may range from loss of train of thought, to sentences only loosely connected in meaning, to speech that is not understandable known as word salad. Social withdrawal, sloppiness of dress and hygiene, and loss of motivation and judgment are all common in schizophrenia.
Distortions of self-experience such as feeling as if one's thoughts or feelings are not really one's own to believing thoughts are being inserted into one's mind, sometimes termed passivity phenomena, are also common. There is often an observable pattern of emotional difficulty, for example lack of responsiveness. Impairment in social cognition is associated with schizophrenia, as are symptoms of paranoia. Social isolation commonly occurs. Difficulties in working and long-term memory, attention, executive functioning, and speed of processing also commonly occur. In one uncommon subtype, the person may be largely mute, remain motionless in bizarre postures, or exhibit purposeless agitation, all signs of catatonia. People with schizophrenia often find facial emotion perception to be difficult. It is unclear if the phenomenon called "thought blocking", where a talking person suddenly becomes silent for a few seconds to minutes, occurs in schizophrenia.
About 30 to 50 percent of people with schizophrenia fail to accept that they have an illness or comply with their recommended treatment. Treatment may have some effect on insight.
People with schizophrenia may have a high rate of irritable bowel syndrome but they often do not mention it unless specifically asked. Psychogenic polydipsia, or excessive fluid intake in the absence of physiological reasons to drink, is relatively common in people with schizophrenia.
Schizophrenia is often described in terms of positive and negative (or deficit) symptoms. "Positive symptoms" are those that most individuals do not normally experience, but are present in people with schizophrenia. They can include delusions, disordered thoughts and speech, and tactile, auditory, visual, olfactory and gustatory hallucinations, typically regarded as manifestations of psychosis. Hallucinations are also typically related to the content of the delusional theme. Positive symptoms generally respond well to medication.
"Negative symptoms" are deficits of normal emotional responses or of other thought processes, and are less responsive to medication. They commonly include flat expressions or little emotion, poverty of speech, inability to experience pleasure, lack of desire to form relationships, and lack of motivation. Negative symptoms appear to contribute more to poor quality of life, functional ability, and the burden on others than positive symptoms do. People with greater negative symptoms often have a history of poor adjustment before the onset of illness, and response to medication is often limited.
The validity of the positive and negative construct has been challenged by factor analysis studies observing a three dimension grouping of symptoms. While different terminology is used, a dimension for hallucinations, a dimension for disorganization, and a dimension for negative symptoms are usually described.
Stuttering, also known as stammering, is a speech disorder in which the flow of speech is disrupted by involuntary repetitions and prolongations of sounds, syllables, words or phrases as well as involuntary silent pauses or blocks in which the person who stutters is unable to produce sounds. The term "stuttering" is most commonly associated with involuntary sound repetition, but it also encompasses the abnormal hesitation or pausing before speech, referred to by people who stutter as "blocks", and the prolongation of certain sounds, usually vowels or semivowels. According to Watkins et al., stuttering is a disorder of "selection, initiation, and execution of motor sequences necessary for fluent speech production." For many people who stutter, repetition is the primary problem. The term "stuttering" covers a wide range of severity, encompassing barely perceptible impediments that are largely cosmetic to severe symptoms that effectively prevent oral communication. In the world, approximately four times as many men as women stutter, encompassing 70 million people worldwide, or about 1% of the world's population.
The impact of stuttering on a person's functioning and emotional state can be severe. This may include fears of having to enunciate specific vowels or consonants, fears of being caught stuttering in social situations, self-imposed isolation, anxiety, stress, shame, being a possible target of bullying (especially in children), having to use word substitution and rearrange words in a sentence to hide stuttering, or a feeling of "loss of control" during speech. Stuttering is sometimes popularly seen as a symptom of anxiety, but there is actually no direct correlation in that direction (though as mentioned the inverse can be true, as social anxiety may actually develop in individuals as a result of their stuttering).
Stuttering is generally not a problem with the physical production of speech sounds or putting thoughts into words. Acute nervousness and stress do not cause stuttering, but they can trigger stuttering in people who have the speech disorder, and living with a stigmatized disability can result in anxiety and high allostatic stress load (chronic nervousness and stress) that reduce the amount of acute stress necessary to trigger stuttering in any given person who stutters, exacerbating the problem in the manner of a positive feedback system; the name 'stuttered speech syndrome' has been proposed for this condition. Neither acute nor chronic stress, however, itself creates any predisposition to stuttering.
The disorder is also "variable", which means that in certain situations, such as talking on the telephone or in a large group, the stuttering might be more severe or less, depending on whether or not the stutterer is self-conscious about their stuttering. Stutterers often find that their stuttering fluctuates and that they have "good" days, "bad" days and "stutter-free" days. The times in which their stuttering fluctuates can be random. Although the exact etiology, or cause, of stuttering is unknown, both genetics and neurophysiology are thought to contribute. There are many treatments and speech therapy techniques available that may help decrease speech disfluency in some people who stutter to the point where an untrained ear cannot identify a problem; however, there is essentially no cure for the disorder at present. The severity of the person's stuttering would correspond to the amount of speech therapy needed to decrease disfluency. For severe stuttering, long-term therapy and hard work is required to decrease disfluency.
Primary stuttering behaviors are the overt, observable signs of speech disfluencies, including repeating sounds, syllables, words or phrases, silent blocks and prolongation of sounds. These differ from the normal dysfluencies found in all speakers in that stuttering dysfluencies may last longer, occur more frequently, and are produced with more effort and strain. Stuttering dysfluencies also vary in quality: common dysfluencies tend to be repeated movements, fixed postures, or superfluous behaviors. Each of these three categories is composed of subgroups of stutters and dysfluencies.
- Repeated movements
- Part-word repetition—a single segment of a word is repeated (for example: "s-s-stuttering!") or a part of a word which is still a full syllable such as "un—un—under the..." and "o—o—open".
- Incomplete syllable repetition—an incomplete syllable is repeated, such as a consonant without a vowel, for example, "c—c—c—cold".
- Whole-word repetition—a whole word, or more than one word is repeated, such as "I know—I know—I know a lot of information.".
- Fixed postures
- Prolongation—prolongation of a sound occurs such as "mmmmmmmmmom".
- Block—such as a block of speech or a tense pause where nothing is said despite efforts.
- Superfluous behaviors
- Interjections—this includes an interjection such as an unnecessary "uh" or "um" as well as revisions, such as going back and correcting one's initial statements such as "I—My girlfriend...", where the "I" has been corrected to the word "my".
- Secondary characteristics—these are visible or audible speech behaviors, such as lip smacking, throat clearing, head thrusting, etc., usually representing an effort to break through or circumvent a block or stuttering loop.
A "manic episode" is defined in the American Psychiatric Association's diagnostic manual as a "distinct period of abnormally and persistently elevated, expansive, or irritable mood and abnormally and persistently increased activity or energy, lasting at least 1 week and present most of the day, nearly every day (or any duration if hospitalization is necessary)," where the mood is not caused by drugs/medication or a medical illness (e.g., hyperthyroidism), and (a) is causing obvious difficulties at work or in social relationships and activities, or (b) requires admission to hospital to protect the person or others, or (c) the person is suffering psychosis.
To be classed as a manic episode, while the disturbed mood and an increase in goal directed activity or energy is present at least three (or four if only irritability is present) of the following must have been consistently present:
1. Inflated self-esteem or grandiosity.
2. Decreased need for sleep (e.g., feels rested after 3 hours of sleep).
3. More talkative than usual or pressure to keep talking.
4. Flights of ideas or subjective experience that thoughts are racing.
5. Increase in goal directed activity, or psychomotor acceleration.
6. Distractibility (too easily drawn to unimportant or irrelevant external stimuli).
7. Excessive involvement in activities with a high likelihood of painful consequences.(e.g., extravagant shopping, improbable commercial schemes, hypersexuality).
Though the activities one participates in while in a manic state are not "always" negative, those with the potential to have negative outcomes are far more likely.
If the person is concurrently depressed, they are said to be having a mixed episode.
The World Health Organization's classification system defines "a manic episode" as one where mood is higher than the person's situation warrants and may vary from relaxed high spirits to barely controllable exuberance, accompanied by hyperactivity, a compulsion to speak, a reduced sleep requirement, difficulty sustaining attention and often increased distractibility. Frequently, confidence and self-esteem are excessively enlarged, and grand, extravagant ideas are expressed. Behavior that is out of character and risky, foolish or inappropriate may result from a loss of normal social restraint.
Some people also have physical symptoms, such as sweating, pacing, and weight loss. In full-blown mania, often the manic person will feel as though his or her goal(s) trump all else, that there are no consequences or that negative consequences would be minimal, and that they need not exercise restraint in the pursuit of what they are after. Hypomania is different, as it may cause little or no impairment in function. The hypomanic person's connection with the external world, and its standards of interaction, remain intact, although intensity of moods is heightened. But those who suffer from prolonged unresolved hypomania do run the risk of developing full mania, and indeed may cross that "line" without even realizing they have done so.
One of the most signature symptoms of mania (and to a lesser extent, hypomania) is what many have described as racing thoughts. These are usually instances in which the manic person is excessively distracted by objectively unimportant stimuli. This experience creates an absent-mindedness where the manic individual's thoughts totally preoccupy him or her, making him or her unable to keep track of time, or be aware of anything besides the flow of thoughts. Racing thoughts also interfere with the ability to fall asleep.
Manic states are always relative to the normal state of intensity of the afflicted individual; thus, already irritable patients may find themselves losing their tempers even more quickly and an academically gifted person may, during the hypomanic stage, adopt seemingly "genius" characteristics and an ability to perform and articulate at a level far beyond that which would be capable during euthymia. A very simple indicator of a manic state would be if a heretofore clinically depressed patient suddenly becomes inordinately energetic, cheerful, aggressive, or "over happy." Other, often less obvious, elements of mania include delusions (generally of either grandeur or persecution, according to whether the predominant mood is euphoric or irritable), hypersensitivity, hyper vigilance, hypersexuality, hyper-religiosity, hyperactivity and impulsivity, a compulsion to over explain, (typically accompanied by pressure of speech) grandiose schemes and ideas, and a decreased need for sleep (for example, feeling rested after only 3 or 4 hours of sleep); in the case of the latter, the eyes of such patients may both look and feel abnormally "wide" or "open," rarely blinking, and this often contributing to some clinicians’ erroneous belief that these patients are under the influence of a stimulant drug, when the patient, in fact, is either not on any mind-altering substances or is actually on a depressant drug, in a misguided attempt to ward off any undesirable manic symptoms. Individuals may also engage in out-of-character behavior during the episode, such as questionable business transactions, wasteful expenditures of money (e.g., spending sprees), risky sexual activity, abuse of recreational substances, excessive gambling, reckless behavior (as "speed driving" or daredevil activity), abnormal social interaction (as manifest via, for example, over familiarity and conversing with strangers), or highly vocal arguments. These behaviours may increase stress in personal relationships, lead to problems at work and increase the risk of altercations with law enforcement. There is a high risk of impulsively taking part in activities potentially harmful to self and others.
Although "severely elevated mood" sounds somewhat desirable and enjoyable, the experience of mania is ultimately often quite unpleasant and sometimes disturbing, if not frightening, for the person involved and for those close to them, and it may lead to impulsive behaviour that may later be regretted. It can also often be complicated by the sufferer's lack of judgment and insight regarding periods of exacerbation of characteristic states. Manic patients are frequently grandiose, obsessive, impulsive, irritable, belligerent, and frequently deny anything is wrong with them. Because mania frequently encourages high energy and decreased perception of need or ability to sleep, within a few days of a manic cycle, sleep-deprived psychosis may appear, further complicating the ability to think clearly. Racing thoughts and misperceptions lead to frustration and decreased ability to communicate with others.
Mania may also, as earlier mentioned, be divided into three “stages.” Stage I corresponds with hypomania and may feature typical hypomanic characteristics, such as gregariousness and euphoria. In stages II and III mania, however, the patient may be extraordinarily irritable, psychotic or even delirious. These latter two stages are referred to as acute and delirious (or Bell’s), respectively.
The doctor will review the person's medical history and perform a complete physical and neurological examination that will include an evaluation of the gait. The doctor may ask the patient to walk in a corridor or climb stairs to observe specific features including:
1. Stance, posture, and base (wide or narrow).
2. Gait initiation (including start hesitation or freezing).
3. Walking speed, stride length, step height, foot clearance.
4. Continuity, symmetry, trunk sway, path deviation, arm swing.
5. Involuntary movements.
6. Ability to turn.
7. Ability to rise from a chair (without using the arms).
8. Chair Testing: Each patient was asked to walk 20–30 feet forward and backward toward the examiner. Patients were then asked to sit in a swivel chair with wheels and to propel the chair forward and backward.
A single manic episode, in the absence of secondary causes, (i.e., substance use disorder, pharmacologic, general medical condition) is sufficient to diagnose bipolar I disorder. Hypomania may be indicative of bipolar II disorder. Manic episodes are often complicated by delusions and/or hallucinations; should the psychotic features persist for a duration significantly longer than the episode of mania (two weeks or more), a diagnosis of schizoaffective disorder is more appropriate. Certain of "obsessive-compulsive spectrum" disorders as well as impulse control disorders share the name "mania," namely, kleptomania, pyromania, and trichotillomania. Despite the unfortunate association implied by the name, however, no connection exists between mania or bipolar disorder and these disorders.
B deficiency can also cause characteristics of mania and psychosis.
Hyperthyroidism can produce similar symptoms to those of mania, such as agitation, elevated mood, increased energy, hyperactivity, sleep disturbances and sometimes, especially in severe cases, psychosis.
Mania is the defining feature of bipolar disorder and can occur with different levels of severity. With milder levels of mania, known as hypomania, individuals are energetic, excitable, and may be highly productive. As hypomania worsens, individuals begin to exhibit erratic and impulsive behavior, often making poor decisions due to unrealistic ideas about the future, and sleep less. At the extreme, manic individuals can experience distorted or delusional beliefs about the universe, hallucinate, hear voices, to the point of psychosis. A depressive episode commonly follows an episode of mania. The biological mechanisms responsible for switching from a manic or hypomanic episode to a depressive episode, or vice versa, remain poorly understood.
Mania is a distinct period of at least one week of elevated or irritable mood, which can range from euphoria to delirium, and those experiencing hypo- or mania may exhibit three or more of the following behaviors: speak in a rapid, uninterruptible manner, short attention span, racing thoughts, increased goal-oriented activities, agitation, or they may exhibit behaviors characterized as impulsive or high-risk, such as hypersexuality or excessive spending. To meet the definition for a manic episode, these behaviors must impair the individual's ability to socialize or work. If untreated, a manic episode usually lasts three to six months.
People with hypomania or mania may experience a decreased need of sleep, impaired judgment, and speak excessively and very rapidly. Manic individuals often have a history of substance abuse developed over years as a form of "self-medication". At the more extreme, a person in a full blown manic state can experience psychosis; a break with reality, a state in which thinking is affected along with mood. They may feel unstoppable, or as if they have been "chosen" and are on a "special mission", or have other grandiose or delusional ideas. This may lead to violent behavior and, sometimes, hospitalization in an inpatient psychiatric hospital. The severity of manic symptoms can be measured by rating scales such as the Young Mania Rating Scale, though questions remain about the reliability of these scales.
The onset of a manic or depressive episode is often foreshadowed by sleep disturbances. Mood changes, psychomotor and appetite changes, and an increase in anxiety can also occur up to three weeks before a manic episode develops.
Major depression significantly affects a person's family and personal relationships, work or school life, sleeping and eating habits, and general health. Its impact on functioning and well-being has been compared to that of other chronic medical conditions such as diabetes.
A person having a major depressive episode usually exhibits a very low mood, which pervades all aspects of life, and an inability to experience pleasure in activities that were formerly enjoyed. Depressed people may be preoccupied with, or ruminate over, thoughts and feelings of worthlessness, inappropriate guilt or regret, helplessness, hopelessness, and self-hatred. In severe cases, depressed people may have symptoms of psychosis. These symptoms include delusions or, less commonly, hallucinations, usually unpleasant. Other symptoms of depression include poor concentration and memory (especially in those with melancholic or psychotic features), withdrawal from social situations and activities, reduced sex drive, irritability, and thoughts of death or suicide. Insomnia is common among the depressed. In the typical pattern, a person wakes very early and cannot get back to sleep. Hypersomnia, or oversleeping, can also happen. Some antidepressants may also cause insomnia due to their stimulating effect.
A depressed person may report multiple physical symptoms such as fatigue, headaches, or digestive problems; physical complaints are the most common presenting problem in developing countries, according to the World Health Organization's criteria for depression. Appetite often decreases, with resulting weight loss, although increased appetite and weight gain occasionally occur. Family and friends may notice that the person's behavior is either agitated or lethargic. Older depressed people may have cognitive symptoms of recent onset, such as forgetfulness, and a more noticeable slowing of movements. Depression often coexists with physical disorders common among the elderly, such as stroke, other cardiovascular diseases, Parkinson's disease, and chronic obstructive pulmonary disease.
Depressed children may often display an irritable mood rather than a depressed mood, and show varying symptoms depending on age and situation. Most lose interest in school and show a decline in academic performance. They may be described as clingy, demanding, dependent, or insecure. Diagnosis may be delayed or missed when symptoms are interpreted as normal moodiness.
Major depressive disorder (MDD), also known simply as depression, is a mental disorder characterized by at least two weeks of low mood that is present across most situations. It is often accompanied by low self-esteem, loss of interest in normally enjoyable activities, low energy, and pain without a clear cause. People may also occasionally have false beliefs or see or hear things that others cannot. Some people have periods of depression separated by years in which they are normal while others nearly always have symptoms present. Major depressive disorder can negatively affect a person's personal, work, or school life, as well as sleeping, eating habits, and general health. Between 2–7% of adults with major depression die by suicide, and up to 60% of people who die by suicide had depression or another mood disorder.
The cause is believed to be a combination of genetic, environmental, and psychological factors. Risk factors include a family history of the condition, major life changes, certain medications, chronic health problems, and substance abuse. About 40% of the risk appears to be related to genetics. The diagnosis of major depressive disorder is based on the person's reported experiences and a mental status examination. There is no laboratory test for major depression. Testing, however, may be done to rule out physical conditions that can cause similar symptoms. Major depression should be differentiated from sadness, which is a normal part of life and is less severe. The United States Preventive Services Task Force (USPSTF) recommends screening for depression among those over the age 12, while a prior Cochrane review found that the routine use of screening questionnaires have little effect on detection or treatment.
Typically, people are treated with counseling and antidepressant medication. Medication appears to be effective, but the effect may only be significant in the most severely depressed. It is unclear whether medications affect the risk of suicide. Types of counseling used include cognitive behavioral therapy (CBT) and interpersonal therapy. If other measures are not effective electroconvulsive therapy (ECT) may be tried. Hospitalization may be necessary in cases with a risk of harm to self and may occasionally occur against a person's wishes.
Major depressive disorder affected approximately 216 million people (3% of the world's population) in 2015. The percentage of people who are affected at one point in their life varies from 7% in Japan to 21% in France. Lifetime rates are higher in the developed world (15%) compared to the developing world (11%). It causes the second most years lived with disability after low back pain. The most common time of onset is in a person in their 20s and 30s. Females are affected about twice as often as males. The American Psychiatric Association added "major depressive disorder" to the "Diagnostic and Statistical Manual of Mental Disorders" (DSM-III) in 1980. It was a split of the previous depressive neurosis in the DSM-II which also encompassed the conditions now known as dysthymia and adjustment disorder with depressed mood. Those currently or previously affected may be stigmatized.
Symptoms of M2DS include infantile hypotonia and failure to thrive, delayed psychomotor development, impaired speech, abnormal or absent gait, epilepsy, spasticity, gastrointestinal motility problems, recurrent infections, and genitourinary abnormalities. Many of those affected by M2DS also fit diagnostic criteria for autism. M2DS can be associated with syndromic facies, namely an abnormally flat back of the head, underdevelopment of the midface, ear anomalies, deep-set eyes, prominent chin, pointed nose, and a flat nasal bridge.
MECP2 Duplication Syndrome (M2DS) is a rare disease that is characterized by severe intellectual disability and impaired motor function. It is an X-linked genetic disorder caused by the overexpression of MeCP2 protein.