Lack Of Facial Expression Research Articles

Reduced Serotonin Receptor Subtypes in a Limbic and a Neocortical Region in Autism

Autism is a behaviorally defined, neurological disorder with symptom onset before the age of 3. Abnormalities in social-emotional behaviors are a core deficit in autism, and are characterized by impaired reciprocal-social interaction, lack of facial expressions, and the inability to recognize familiar faces. The posterior cingulate cortex (PCC) and fusiform gyrus (FG) are two regions within an extensive limbic-cortical network that contribute to social-emotional behaviors. Evidence indicates that changes in brains of individuals with autism begin prenatally. Serotonin (5-HT) is one of the earliest expressed neurotransmitters, and plays an important role in synaptogenesis, neurite outgrowth, and neuronal migration. Abnormalities in 5-HT systems have been implicated in several psychiatric disorders, including autism, as evidenced by immunology, imaging, genetics, pharmacotherapy, and neuropathology. Although information is known regarding peripheral 5-HT in autism, there is emerging evidence that 5-HT systems in the central nervous system, including various 5-HT receptor subtypes and transporters, are affected in autism. The present study demonstrated significant reductions in 5-HT1A receptor-binding density in superficial and deep layers of the PCC and FG, and in the density of 5-HT(2A) receptors in superficial layers of the PCC and FG. A significant reduction in the density of serotonin transporters (5-HTT) was also found in the deep layers of the FG, but normal levels were demonstrated in both layers of the PCC and superficial layers of the FG. This study provides potential substrates for decreased 5-HT modulation/innervation in the autism brain, and implicate two 5-HT receptor subtypes as potential neuromarkers for novel or existing pharmacotherapies.

G110(P) Facial Nerve Palsy in Moebius Sequence – Can Practise Make Perfect?

Moebius Sequence or Syndrome (MBS) is an extremely rare (∼0.002% of births) congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include deafness and...

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

missense mutations. However, very few families with a recessive mode of inheritance have also been recognized [2]. Desmin immunostaining of normal skeletal muscle shows uniform sarcoplasmic and subsarcolemmal localization, while affected muscles display cytoplasmic aggregates of misfolded filaments and disruption of the myofibrillar apparatus rather than absence of protein [2], so that individuals with desmin mutations are frequently categorized within the group of disorders known as myofibrillar myopathies. We describe a family with no history of neuromuscular or cardiac disorders with two siblings affected by autosomal recessive desminopathy manifesting as a slowly progressive, predominantly proximal muscle fatigue and weakness. The proband, a 12 year old boy, was born at term and had normal gross motor milestones, but presented poor head control when crawling, lack of facial expression and congenital ptosis. From the age of 3 he showed difficulty rising from the floor, jumping, running and going upstairs. The weakness was slowly progressive over the years and he remains independently mobile. He tires easily and benefits from short breaks. On examination he presented with shoulder, grip and hip muscle weakness, symmetrical scapular winging, mild thoracic scoliosis and mild bilateral calf hypertrophy. Muscle MRI features are shown in Fig. 1a. He shows an unusual pattern of swallowing, turning his neck to ingest food, but he has a good appetite and is generally healthy. Forced vital capacity (FVC) was 45 % of the predicted value in sitting. CK levels were raised up to 1,000 IU/L, cardiac examinations were normal. His 11 year old sister displayed a slightly less pronounced weakness, contractures of long finger flexors and shoulders and hyperextensible elbows as well as similar tiredness and swallowing habit as her brother. She has a small appetite with a weight below the 3rd centile and also presents a history of asthma and rare chest infections. Her FVC was 40 % of the predicted value Desmin is a muscle-specific intermediate filament that provides maintenance of cellular integrity and force transmission [2]. DES gene mutations cause a spectrum of adult-onset disorders, ranging from myopathies with and without cardiac involvement to cardiomyopathy without skeletal muscle involvement [3]. Distal and proximal weakness involving upper and lower limbs muscles are observed in most patients [9]. Desminopathies are usually inherited in an autosomal dominant fashion, predominantly with

Raumforderung der Regio temporalis bei Fazialisparese, vestibulärem Ausfall und Hörminderung

A 73-year-old female patient complained of right-sided facial pain, progressive loss of hearing, giddiness when changing position, a pre-auricular swelling and lack of facial expression. Clinically there was a right-sided indolent and immovable swelling approximately 7 cm in size and an incomplete ipsilateral acute peripheral facial paralysis. Magnetic resonance tomography revealed a space-occupying lesion approximately 75 mm in diameter right temporal and multilocular metastases in the pelvis, spinal column, clavicle and skull. Histology showed this to be a well to moderately differentiated adenocarcinoma with centers of positive immune response to GCDFP-24 (gross cystic disease fluid protein). The subsequent computed tomography of the thorax and mammography located the approximately 25 mm in size primary tumor in the left breast. After surgery and radiation therapy the TNM classification was a tubular adenocarcinoma of the left breast grade 2, T2N0M1 (OSS multiple osseous, BRA brain) stage IV.

How Lack of Facial Expression Affects One’s Ability To Feel and Express Emotions

How Lack of Facial Expression Affects One’s Ability To Feel and Express Emotions

Facial transplantation: a working party report from the Royal College of Surgeons of England.

We are publishing this working party report on facial transplantation from the Royal College of Surgeons, England, in order to get opinions from the transplant community as to whether it is appropriate or not to perform this procedure at this point in time. There is no question that technically this can be done, but do the risks of failure, both technical and immunological, and the long-term risks of immunosuppression outweigh the potential benefits to the recipient who undoubtedly would be a severely burnt patient with a very scarred immobile face? The problems are not primarily technical but are immunological, psychological, and legal.

Mobius syndrome: a case report

Mobius Syndrome is characterized by showing unilateral facial nerve palsy of the sixth and seventh nerves, lack of facial expression, inability to smile and to tightly close the right eyelids. In this report, a 7-year-old-boy with Mobius syndrome is presented. He had asymmetry of facial expression, anomalies of fingers and severe tooth decay. After dental treatment, the periodic re-care visits should be done according to the eruption pattern.

Depression in Parkinson's Disease.

Depression is very common in Parkinson's disease (PD), but its severity and particular symptoms vary. It can often be difficult to diagnose because many of the symptoms typically associated with depression (eg, sleep difficulties, fatigue) can be seen in nondepressed patients with PD, and signs thought to represent depression (eg, lack of facial expression, slowness) can be produced by PD itself. Apathy, although a possible feature of depression, can exist apart from depression and is often associated with cognitive impairment. Therefore, when evaluating patients with PD for possible depression, one should concentrate on the psychological or ideational aspects of the illness. One must determine whether the patient feels sad or hopeless or has a marked inability to enjoy life. Once it has been determined that the patient has clinically significant depressive symptoms, it is important to let him or her know that depression is an aspect of PD requiring treatment, just like the motor manifestations of the disease. The idea of adding antidepressant medications and the possibility of psychotherapy should be introduced. A very reasonable first-choice antidepressant is either sertraline or paroxetine. Because of isolated case reports of worsening motor function associated with institution of a selective serotonin reuptake inhibitor (SSRI), one should keep track of when the medication was started so that the patient can be seen again within a month. It is important from a psychological perspective to have regular follow-up visits when treating depression. If the SSRIs are ineffective or not tolerated, nortriptyline is a good next choice. It has fewer anticholinergic effects and is less likely to cause or worsen orthostatic hypotension than other tricyclic antidepressants. Amitriptyline, although an old favorite of neurologists, is very sedating and has too much anticholinergic activity to be well tolerated in the higher doses needed to treat depression. If a patient could benefit from a dopamine agonist from a motor standpoint and his or her depressive symptoms are mild, consider using pramipexole, which may improve mood and motivation (although this has not yet been proven in a well-controlled trial). It is a good idea to keep patients on antidepressant therapy at least 6 months; many patients require long-term treatment. If a patient is severely depressed, he or she should be referred to a psychiatrist, who may consider admission to the hospital and possible electroconvulsive therapy.

Choto-san in the treatment of vascular dementia: a double-blind, placebo-controlled study

In an earlier placebo-controlled study, we demonstrated that a kampo (Japanese herbal) medicine called Choto-san (Diao-Teng-San in Chinese) was effective in treating vascular dementia. To evaluate its efficacy using more objective criteria, we carried out a multi-center, double-blind study of Choto-san extract (7.5 g/day) and a placebo, each given three times a day for 12 weeks to patients suffering from this condition. The study enrolled and analyzed 139 patients, 50 males and 89 females, with a mean age of 76.6 years. Choto-san was statistically superior to the placebo in global improvement rating, utility rating, global improvement rating of subjective symptoms, global improvement rating of psychiatric symptoms and global improvement rating of disturbance in daily living activities. Such items as spontaneity of conversation, lack of facial expression, decline in simple mathematical ability, global intellectual ability, nocturnal delirium, sleep disturbance, hallucination or delusion, and putting on and taking off clothes were significantly improved at one or more evaluation points in those taking Choto-san compared to those taking the placebo. Furthermore, the change in revised version of Hasegawa's dementia scale from the beginning point in Choto-san group was tended to be higher than that in placebo group with no statistical significance. These results suggest that Choto-san is effective in the treatment of vascular dementia.