Mental disorders associated with chromosomal abnormalities

Introduction to mental disorders associated with chromosomal abnormalities Human autosomal abnormalities are often accompanied by obvious physical deformities and severe mental disorders. Sexual chromosomal abnormalities are more likely to cause mental disorders. In addition to certain physical characteristics, some patients with mild chromosomal abnormalities have mild mental defects or psychological and personality development. Abnormalities are prone to behavioral deviations and social adaptation difficulties, and even mental disorders. Because the physical signs of these patients are not very obvious, they fail to attract the attention of patients or their families, and sometimes they often visit psychiatry because of mental symptoms. basic knowledge The proportion of illness: 0.002% Susceptible people: no special people Mode of infection: non-infectious Complications: paranoia

Causes of schizophrenia associated with chromosomal abnormalities

(1) Causes of the disease

Mainly due to abnormal structure and quantity of sex chromosomes, leading to testicular or ovarian hypoplasia, insufficient endocrine secretion, interfering with the function of the hypothalamic-pituitary-gonadal (HPG) axis, resulting in mental disorders, the cause of XXY-type mental disorders, except for possible It is related to brain maturation defects and gonadal-pituitary-hypothalamic axis disorders. It is also related to the weak psychological defense mechanism and low intelligence level of patients. Most of these patients' mental retardation belongs to the edge state. According to statistics, the level of intelligence is lower. Syndrome is more likely to be associated with mental disorders than those without mental retardation. Treatment, low-dose antipsychotics and appropriate amount of sex hormones can often achieve satisfactory results. Generally, long-term consolidation is not required, and medication can be stopped after 3 to 6 months of symptom control.

Tumer syndrome or congenital ovarian hypoplasia related to the occurrence of mental disorders are: biological factors: most of the disease has brain development defects, especially the right hemisphere development is significantly blocked, due to ovarian hypoplasia endocrine deficiency, can affect the gonadal-pituitary Hypothalamic axis function, estrogen is too low, gonadotropin is high, luteinizing hormone and follicle hormone levels are significantly reduced, which can cause mental disorders, psychosocial factors: due to secondary sexual dysplasia, affecting patients' mental health , formed a special personality, prone to social adaptation difficulties, poor interpersonal relationships, introverted, isolated, passive behavior, naive, lack of inhibition, easy to impulsive, sensitive, suspicious and easy to produce pessimism, shyness and hostility, etc., these bad personality tendencies weaken The normal psychological defense mechanism, the triggering factors: most patients with this disease are accompanied by intelligent developmental disorders, and those with lower intelligence levels are more likely to have mental disorders than those without intellectual disabilities.

(two) pathogenesis

Sexual chromosome abnormalities can be a number or structural change, such as one X or Y chromosome in a male; one X chromosome in a female, or a ring in the X chromosome, such as an arm, resulting in testicular or ovarian hypoplasia Insufficient endocrine secretion, interfering with the function of the hypothalamic-pituitary-gonadal (HPG) axis, such as the XXY type, when the mood fluctuates, the levels of luteinizing hormone (LH) and urinary follicle stimulating hormone (FSH) in the blood rise sharply, and when the symptoms are relieved, Down to normal; XO type also has low estrogen value, high gonadotropin tendency, LH and FSH levels are significantly reduced, suggesting the presence of HPG axis dysfunction, affecting brain development, maturity defects or developmental hindrance, these components The biological basis of the disease, due to gonadal developmental disorders, endocrine deficiency, secondary sexual development, affecting the patient's psychological growth, forming a special psychological personality characteristics, weakening the normal psychological defense mechanism, when encountering certain Stress factors can induce mental disorders, due to brain maturation defects, poor mental development, superficial understanding of the things encountered, narrow understanding, mental disorders The production of the disorder has a triggering effect.

Prevention of mental disorders associated with chromosomal abnormalities

Such chromosomal abnormalities can be detected before puberty, and attention has been paid to psychological education interventions from adolescence, especially to enable them to correctly understand their own defects, improve their psychological defense ability and enhance their stress factors. Immunity is beneficial and helps to avoid or reduce mental and behavioral problems.

Chromosomal disorders associated with chromosomal abnormalities Complications paranoia

The disease is developing slowly, and it is not noticed by people around. Gradually developed into one or a set of interrelated illusions, the content can be victimized, jealous, litigation, love, exaggeration, suspected and so on. I want to last longer, sometimes for a lifetime. There are few hallucinations, and there are no typical symptoms of schizophrenia such as being controlled and thinking being broadcast. The murderous delusions are often accompanied by acquaintances. The patient believes that there is a vicious force against him in the society, and he is persecuted in a planned way, at any cost and at all costs.

Symptoms of mental disorders associated with chromosomal abnormalities Common symptoms Mental disorders Thinking disorder Depression Mania Anxiety After a hairy low penis short tremor irritability

There are four basic types of sex chromosome abnormalities. In males, there is one X-type XY type and one Y-type XYY type. In women, there is one X-type XO type and one X-type X type. Among them, mental disorders caused by male XXY and female XO are the most common in the clinic.

1.XXY type

Also known as congenital testicular hypoplasia or Klinefelter syndrome, clinically characterized by testicular and male sexual dysplasia, the so-called eunuch-like body, body skin is delicate, hair is scarce, no beard, mane and pubic hair, testicles as small as soybeans Peanut or broad bean is large, penis is short, erection can not be or not firm, tone is sharp, throat is not obvious, breast or nipple is mildly developed, body is taller and more obtuse, and the body sways when walking. Penguin-like gait, no fertility, semen check for inactive sperm.

His personality psychological characteristics are immature and passive, manifested as emotional indifference, calmness, timidity, awkward movements, difficulty in gregarious, indecisive, less friends, lack of motivation and confidence, and such patients are often masculine. Feeling uneasy, he is very anxious about his low sexual function and lack of fertility, and forms a strong psychological pressure.

About 1/4 of the patients have lower mental development than normal, mostly mildly lower or marginal intelligence. Those with lower intelligence level are more likely to be accompanied by mental abnormalities than those without mental retardation. Most patients' intelligence tests show that speech IQ is more than operational intelligence. Low, EEG shows mostly slow alpha rhythm as background, scattered activity or can lead to delta wave, some patients may have epileptiform discharge changes, dermatoglyphics, fingerprints are mainly ulnar; total fingerprint Significantly lower than normal, even less than 100; atd angle is too large, check oral mucosal cells X-chromatin positive; peripheral blood karyotype is 47,XXY, or 47,XXY/46,XY chimera, the latter clinical characteristics It is relatively light.

About 10% to 34% of patients with mental disorders, their psychiatric symptoms are not specific, often similar to schizophrenia or affective disorder of manic depressive episodes, but lack of typical core symptoms and course of disease evolution. Unlike progressive schizophrenia, it is not as rampant as affective disorder, alternating depression or frequent circulation; some patients may have sexual crimes and other antisocial behaviors, which can be clinically classified into the following four types.

(1) Emotional type: mainly with different levels of emotional changes, or excitement is high, or depression is low, similar to the group of manic depressive symptoms.

(2) Schizophrenia-like form: illusion, delusion-oriented, accompanied by schizophrenic symptoms such as certain thinking disorders and behavioral disorders.

(3) Split-emotional type: It has the characteristics of both of them, that is, on the background of emotional abnormalities, there are hallucinations, delusions, thinking or behavioral disorders.

(4) Anti-social behavioral type: mainly manifested as illegality, violation of discipline and obvious sexual psychological disorder, which may be related to immature psychological development, low sexual ability and lack of confidence in connecting with adult women. Such patients are self-identified and sexually competent. Insufficient circumstances such as being prone to extreme reactions and endangering society.

2.XYY type

Also known as XYY syndrome or super male syndrome, clinically characterized by tall body, often up to 190cm, may be associated with facial shape and mild body asymmetry, or facial nodules cystic acne, a few Patients may have uncoordinated movements, tremors or other "soft" signs of the nerves. X-ray examination showed that some patients had a osseointegration of the forearm and ulna, and the second sexual characteristics and external genitalia developed as usual. The personality development of these patients began from childhood. It deviates from normal and is revealed only after a few years of age. Its characteristics are characterized by immatureness, impulsivity and instability. It lacks patience and excitement is easy to increase, and it can not withstand setbacks and irritability.

Intelligent development is mostly in the normal range, generally biased to the lower middle level, 10% to 15% may have mild mental retardation, EEG more common slow rhythm and scattered wave, CT examination may have light or moderate The ventricle is enlarged or asymmetrical, suggesting brain dysplasia, and the oral mucosal cells are examined as double Y chromosomes, and the peripheral blood karyotype is 47,XYY or 47,XYY/46,XY chimera.

There are several types of manifestations in psychiatry.

(1) Personality deviation type: mainly manifested as environmental maladaptation, extremely impulsive or aggressive, regardless of the consequences, resulting in violent crimes or other anti-social behaviors. Some patients can admit mistakes afterwards, but they repeat the same mistakes and do not know how to repent.

(2) Schizophrenia: Symptoms are similar to schizophrenia, often with delusions and certain thinking disorders, but lacking the autism and introversion of schizophrenia without progressive decline.

(3) Circumstances or responsiveness: especially those who are paranoid-like, when they are disadvantaged or have stress factors, they are prone to symptoms such as reactive delusions.

(4) Manic type: less common, can be expressed as high mood, more excited words, free to spend money, Lenovo quickly and other manic episodes.

Some scholars believe that the mental performance of patients with XYY syndrome is similar to that of children with mild brain dysfunction (MBD), but unlike adult patients with MBD, the symptoms may be alleviated or disappeared. It can be said that there may be missed XYY individuals in MBD children.

3.XO type

Also known as Tumer syndrome or congenital ovarian hypoplasia, clinically characterized by ovarian, uterine and female sexual dysplasia and primary amenorrhea, often accompanied by short stature and certain body shape abnormalities, such as facial jaw Short and introverted, with large ears and low position, short neck, low hairline, neck, shield chest, wide breasts, undeveloped breasts or nipples, and elbow valgus, vulva Infancy, no pubic hair, examination of the uterus is very small or inaccessible, B-ultrasound shows uterine and accessory dysplasia.

His personality psychological characteristics are lonely, childish, passive and lack of control, easy to impulsive, they are too short for themselves, not sensitive to menstruation and lack of normal female characteristics, resulting in shyness and inferiority, and even slanders' love and marriage Activities, these are likely to be a secondary psychological process.

Some patients may have mild mental retardation or marginal intelligence, and intelligence tests indicate that the IQ of the operation is significantly impaired.

EEG can be marginal abnormality or show low voltage, dermatoglyphic changes, mainly the total number of fingerprints increased significantly, up to 200, the incidence of double palmar sputum increased and the angle of atd increased, check oral mucosal cells X The chromosome is negative, and the karyotype of peripheral blood is 45, X or 45, X/46, XX and 45, X/46, Xi (Xq) and other abnormal chimeras.

The mental disorder of this disease is not specific, and the psychiatric symptoms associated with it are mostly schizophrenic changes, often occurring in chimeric cases, with behavioral disorders, naive, stupidity, aimless arson, destruction, impulsiveness, Outside running; thinking disorder is also very common, there are auditory hallucinations, illusions, murder and relationship delusions, sloppy or chaotic thinking; followed by hallucinations and delusions, with sloppy or chaotic thoughts, emotional apathy or ridicule, irritability, no reason to laugh Or self-speaking, etc., but the progression of the disease does not conform to the typical process of schizophrenia, often similar to psychotic episodes in low-energy patients, some patients may be expressed as emotional disorders, may have symptoms of manic or depressive episodes and different The degree of emotional change such as low mood, painful language, pessimistic fear and anxiety.

4.XXX type

Also known as X trisomy syndrome or super-estrin syndrome, its phenotype is closer to normal people than other sex chromosome abnormalities, about half of patients may have menstrual disorders or repeated spontaneous abortion history, 1/4 of patients may have sexual development Incomplete or primary amenorrhea, due to the lack of physical shape characteristics, is often difficult to be found in the clinic. The psychological personality of such patients tends to be mitotic-like personality, and is susceptible to adverse environmental effects, resulting in personality deviation, which can be expressed as ethics. The concept is weak, debauchery, rudeness, and even anti-social behavior such as violence and murder. The degree of mental retardation is more pronounced in women with multi-body x than men. EEG can be mild or moderate abnormal, slow alpha rhythm Or extensively appearing or solution, the oral mucosal cells were examined as double X chromosome, and the peripheral blood karyotype was 47, XXX or 47, XXX/46, XX chimera.

Examination of mental disorders associated with chromosomal abnormalities

XXY-type EEG showed mostly slow rhythm as background, scattered activity or can lead to delta wave, some patients may have epileptiform discharge changes, dermatoglyphic examination, fingerprints mainly in scales; total fingerprint number Significantly lower than normal, even less than 100; atd angle is too large, check oral mucosal cells X-chromatin positive; peripheral blood karyotype is 47,XXY, or 47,XXY/46,XY chimera.

XYY-type EEG is more common in slow alpha rhythm and scattered wave. CT examination may have mild or moderate ventricle enlargement or asymmetry, suggesting brain dysplasia, checking oral mucosal cells as double Y chromosome, peripheral blood nucleus The type is 47,XYY or 47,XYY/46,XY chimera.

XO-type EEG can be marginal abnormality or show low voltage, dermatoglyphic changes, mainly the total number of fingerprints increased significantly, up to 200, the incidence of double palmar sputum increased and the atd angle increased, check the oral mucosa The cell X chromosome is negative, and the peripheral blood karyotype is 45, X or 45, X/46, XX and 45, X/46, Xi (Xq) and other abnormal chimeras.

XXX EEG can be mild or moderate abnormality, slow alpha rhythm and extensive or fluid, check oral mucosal cells as double X chromosome, peripheral blood chromosome karyotype is 47, XXX or 47, XXX/46, XX Chimera.

Diagnosis and diagnosis of mental disorders associated with chromosomal abnormalities

diagnosis

Poor parenting environment and mental retardation have an important role in the occurrence of mental and behavioral disorders. Their performance is often similar to schizophrenia. It is often misdiagnosed without cytogenetic examination.

In the psychiatric clinic, although the proportion of such patients is small, it is sometimes seen, especially in chimeric cases, because the shape of the body is not significant or the clinician does not pay attention to detailed examination, it is easy to lead to misdiagnosis or missed diagnosis. Therefore, it is not difficult to make a diagnosis based on the detailed medical history and physical shape characteristics, such as considering the possibility of chromosomal abnormalities and then performing cytogenetic examination to determine the type of abnormality.

Differential diagnosis

In the differential diagnosis, attention should be paid to the exclusion of schizophrenia and affective disorder. Patients with mental disorders associated with chromosomal abnormalities often have a certain degree of intelligent defects, and often have certain incentives. Most of the changes are quicker after changing the environment, and some cases are still Attention should be paid to the difference between simple sexual psychological disorder, personality disorder and mental retardation. Klinefelter syndrome (congenital testicular hypoplasia) with mental disorder is not specific because of the mental symptoms of patients with this disease, often with schizophrenia. The appearance of affective psychosis appears, and the physical symptoms of some patients are not obvious. In addition, doctors lack understanding of this aspect, and misdiagnosis often occurs. Some clinicians do not pay attention to detailed examinations (especially for external genitalia). Often ignored, it is more likely to lead to misdiagnosis, but as long as the clinician is alert to the external signs of the disease, timely cytogenetic examination, you can find X chromatin positive, karyotype changes, the diagnosis of this disease is not difficult .

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