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Perisylvian syndrome

This is part of Rare diseases.

Diagnosis: Perisylvian syndrome

Synonyms: Congenital bilateral perisylvian syndrome, Opercular syndrome, Foix-Chavany-Marie syndrome, Worster-Drought syndrome

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Publication date: 2012-11-30
Version: 2.0

ICD 10 code

Q04.3

The disease

Perisylvian syndrome is caused by a structural abnormality in, or damage to, an area deep in the temporal lobes of the brain. The term “perisylvian” refers to the area (“peri” = about or around) of the brain called the sylvian fissure (lateral sulcus), damage to which may be observed in MRI (magnetic resonance imaging) scans. This area acts as the brain’s language and speech centre.

The syndrome is one of a group of congenital neurological diseases characterised by slack muscles of the face and tongue, chewing and swallowing difficulties, delayed or abnormal speech and language development, epilepsy, and in certain cases, impairment of cognitive function and impaired mobility. Similar disorders were described first by the French neurologists Charles Foix, Jan Alfred Chavany and Julien Marie in 1926, and later by the English physician Cecil Charles Worster-Drought in 1956.

Occurrence

There is no definite information on how common perisylvian syndrome is in Sweden. A few cases are found among individuals of different ages with difficult-to-treat epilepsy, or severe congenital speech and swallowing difficulties.

Cause

Perisylvian syndrome is caused by a structural abnormality of an area deep in the temporal lobes of the brain, which is important in controlling movements of the mouth and tongue and in the production of language. It is usually caused by developmental abnormalities during the early stages of foetal development when the cerebral cortex in the operculum, deep in the temporal lobes, develops small irregular folds (gyri). The structural abnormalities may be asymmetrical, meaning that the two halves of the brain are not equally affected. In some cases normal brain tissue is absent, causing an open cleft between the surface of the brain and its cerebral ventricles (schizencephaly). Several potential causes of the structural abnormalities have been suggested, and it is likely that one or several mechanisms contribute to impaired brain development.

Genetic factors are very important, and there are families in which more than one person has the syndrome, although the symptoms may vary from person to person. Studies of families where the disease has been found indicate that there are several forms of inheritance. Several cases have been linked with a mutation on the long arm of the X chromosome (Xq27.2-q27.3 and Xq28). Disorders caused by mutations in genes on the X chromosome primarily affect boys. Perisylvian malformations may also be one of the symptoms of patients with 22q11 deletion syndrome or Zellweger syndrome (see separate information material in the Swedish Board of Health and Welfare database of rare diseases).

Perisylvian syndrome may also be acquired, for example from a local malfunction in the blood circulation of the brain, or an infection in the relevant area of the temporal lobe during the foetal stage. In these cases the condition is not hereditary.

Heredity

If the syndrome is acquired the condition is not hereditary. The risk of parents with a child with perisylvian syndrome having another child with the same condition should be judged on an individual basis after careful analysis, and possibly after an investigation of the family’s background. It is estimated that approximately 15 per cent of all cases are familial, with a risk of recurrence that must be evaluated from case to case.

Symptoms

Perisylvian syndrome involves different degrees of disability. The most common symptoms are impairments of the mobility of the tongue and throat (pseudobulbar palsy), epilepsy and mild cognitive impairment. Children with a variant of the disease may be born with arthrogryposis, which is associated with stiff and crooked joints (contractures) and on occasions with a club foot.

In serious forms of the disease, neonates may have problems sucking and swallowing. Sometimes difficulties in swallowing first become apparent when the child starts eating solids. It can be difficult to chew, move food around in the mouth, and swallow. Drooling is common.

For many, the syndrome is first detected when the child is slow to start talking or has speech difficulties. The most common symptoms are paralysis or impaired motor capacity of the organs necessary for speech (dysarthria) and difficulties coordinating movements (dyspraxia) of the mouth.

Unclear and slurred speech, as well as problems forming certain sounds, are signs of dysarthia. Symptoms also include drooling and swallowing difficulties. Problems in moving the tongue and the mouth mean that children with the syndrome cannot purse their lips or whistle. Oral motor problems, which commonly cause difficulties eating, drinking and speaking, remain throughout life.

Oral motor problems may affect the growth of the lower jaw, which may be smaller than normal (micrognathia). Misalignment of the teeth (malocclusion) may mean that it is difficult to close the mouth completely and that the lower jaw protrudes.

Dyspraxia may be oral or verbal. Oral dyspraxia means that it is difficult to exert voluntary control over movements of the tongue and lips. Verbal dyspraxia means that it is difficult to form words, despite the relevant organs having normal functionality. The symptoms are the result of abnormalities in areas of the brain controlling the motor skills necessary for speech. In verbal dyspraxia it is difficult to make a connection between sounds and syllables, which is necessary to form words. The degree of severity varies. Less severe disabilities give rise to problems with multi-syllable and longer sentences, which become more difficult to formulate the longer they get. Severe dyspraxia may mean that the child cannot form syllables or words.

Other language and communication problems may also occur, including difficulties with grammar and phonology (speech sounds). Children with the syndrome may have specific reading and writing problems (dyslexia). Speech comprehension, however, does not appear to be affected.

Most individuals with this syndrome have epilepsy, in a form difficult to control. Seizures may present as infantile spasms during the child’s first two years of life and develop into other, difficult to treat, forms of epilepsy as the child gets older. In infantile spasms the child experiences a series of short, sudden, cramp-like jerks of the arms, or wider, uncontrolled movements of the arms.

The extent of physical disability varies between individuals, ranging from severe impediment to normal function. Some children with the syndrome have motor problems affecting the whole body, above all with stiffness in the arms, legs and neck. Stiff, malformed joints make it difficult to walk, and to move in general. Children often learn to walk late. Some learn to walk with the help of special aids, while others require a wheelchair.

Mild cognitive impairment and hyperactivity may also present. Individuals with intellectual disability require more time to understand and learn new skills. They may also have difficulties organising new information, adapting to new situations, and have trouble seeing how things or events relate to each other. Expressing their will, thoughts or emotions may take longer than for other children.

Diagnosis

The diagnosis is based on observation of the symptoms, as well as abnormalities in both temporal lobes of the brain, visible in a CT (computerized tomography) scan and an MRI (magnetic resonance imaging) examination.

At the same time that the diagnosis is made the family should be offered genetic counselling and the opportunity for further investigations. It is important to establish whether the condition is inherited or acquired.

Treatment/interventions

There is no cure for Perisylvian syndrome. Resources are used instead to treat the symptoms. Symptoms vary so widely that a careful examination of oral motor skills, speech, cognitive ability, mobility and the nature of epileptic attacks must be made before a course of treatment can be coordinated. Any suspicion of infantile spasms or seizures during the first months of life should be investigated as a matter of urgency.

In order to help the child eat and speak, training in oral motor skills and swallowing should be initiated at an early stage. It is important that the child exercises the muscles of the tongue as this will help in the development of bodily awareness. Training in closing the mouth will help prevent deformities of the lower jaw. During a limited period the child may need to be fed with the help of a PEG (percutaneous endoscopic gastrostomy), a procedure where a feeding tube is inserted into the stomach directly through the abdominal wall.

Medication which is usually given in cases of infantile spasms and epilepsy should also be prescribed for children with perisylvian syndrome. Their epilepsy is often difficult to control as the nature of the attacks varies greatly. Medication is prescribed on the basis of type of seizure, EEG results and effectiveness. The type of medication should be selected taking into account the nature of the attacks, the EEG (electroencephalogram) results and the effects of the medication.

Surgery may sometimes be used to control epileptic attacks. A vagus nerve stimulator can be an alternative if other measures fail. The vagus nerve is one of the twelve cranial nerves originating in the brain. In an operation the stimulator is placed under the left collar bone and it sends electric impulses to the brain with the help of an electrode placed around the vagus nerve in the neck. These impulses can reduce epileptic activity and attacks. After the appropriate investigations, this treatment is available at Swedish university hospitals.

A speech therapist assesses and treats chewing and swallowing problems, drooling and communication difficulties. Treatment usually requires mutli-disciplinary teamwork. The major hospitals in Sweden have specialist teams (dysphagia and nutrition teams) for assessing and treating speech, eating and swallowing difficulties. Special dental treatment is important, providing help with chewing and oral hygiene, and in the fitting of dental braces.

Habilitation

Early habilitation is essential to stimulate development and help compensate for functional limitations. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development. Support and treatment are offered within the medical, educational, psychological, social and technical fields. Habilitation may include assessments, treatment, assistance with choice of aids, information about disabilities and counselling. It also includes information on all available support offered in the community, as well as advice on adjustments to the home environment and other places where the child spends time. The child as well as parents and siblings should be offered support. The family may also need help coordinating interventions.

It is important to carry out thorough investigations into speech impediments and to initiate speech therapy early. In cases of dysarthria, treatment includes oral motor training exercises and practice in articulation. In cases of dyspraxia, pictures are used to help the child gradually learn to string together single sounds to make syllables of increasing complexity. Where there are phonological difficulties, efforts are made to increase the child’s awareness of the differences between words with different sounds. Where there are grammatical difficulties, training is provided in structures which cause problems. Complementary forms of communication may be needed to enable the child to participate fully in different activities.

If the child is dyslexic it is important that he or she has access to specialist help at school. Different computer-based aids can be used to provide support in reading and writing.

For children with a developmental disability it is very important that their speech development is stimulated by Augmentative and Alternative Communication (ACC).

A program of motor training and support is designed with the child’s disabilities in focus. Treatment to increase mobility of the joints must be initiated as early as possible. Mobility is maintained with the help of daily training and orthopaedic supports such as orthoses or plaster casts. Surgery may also be necessary.

Habilitation focuses on individual needs, may vary over time and takes place in collaboration with individuals close to the child.

The local authority can offer different forms of support to facilitate everyday life.

If parents wish, they should also be offered the opportunity to contact other families in a similar situation with whom they can share their experiences.

Adults with the syndrome require continued habilitation and support, adapted to their individual, daily needs.

Practical advice

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National and regional resources in Sweden

Paediatric clinics at Swedish university hospitals evaluate and treat perisylvian syndrome.

Expertise in orofacial problems can be found at Mun-H-Center, Institute of Odontology, Medicinaregatan 12A, SE-413 90 Gothenburg, Sweden. Tel: +46 31 750 92 00, fax: +46 31 750 92 01, email: mun-h-center@vgregion.se, www.mun-h-center.se.

Hällsboskolan in Sigtuna is a state special school for children with serious speech impediments. Box 80, SE-193 22 Sigtuna, Sweden. Tel: +46 10 473 50 00. Contact Elisabeth Ångström, email: elisabeth.angstrom@spsm.se. Many local authorities also have special classes for children with speech impediment.

Resource personnel

Chief physician Tove Hallböök, Unit for Neurology, Neuropsychiatry, Paediatric psychiatry and Habilitation, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00.

Associate Professor Mårten Kyllerman, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00.

Speech therapist Gunilla Rejnö-Habte Selassie, MSc, The Queen Silvia Children’s Hospital, SE-416 85 Göteborg, Sweden. Tel: +46 31 343 40 00, email: gunilla.rejno-habte-selassie@vgregion.se.

Speech therapist Åsa Mogren, Mun-H-Center, Ågrenska, Box 2046, 436 02 Hovås, Sweden. Tel: +46 31 750 92 00, email: asa.mogren@vgregion.se.

Courses, exchanges of experience, recreation

Ågrenska is a national competence centre for rare diseases and its families’ programme arranges stays for children and young people with rare diseases and their families. Ågrenska is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. Every year a number of adults with rare diseases also visits Ågrenska. For information, please contact the Ågrenska centre, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Organizations for the disabled/patient associations etc.

FUB, The Swedish National Association for Children, Young People and Adults with Intellectual Disabilities, Gävlegatan 18 C, Stockholm. Mailing address: Box 6436, SE-113 82 Stockholm, Sweden. Tel: +46 8 508 866 00, fax: +46 8 508 866 66, email: fub@fub.se, www.fub.se.

Talknuten, Parent Association, The Aphasia Association in Sweden. Tel: +46 8 545 663 66 or +46 8 545 663 74, email: talknuten@afasi.se, www.afasi.se.

DHB, The Swedish National Association for Deaf, Hearing-Impaired and Language-Impaired Children, Klostergatan 15, SE-703 61 Örebro, Sweden. Tel: +46 19 17 08 30, text tel: dial +46 19 19 68 90 and give the number 019122146*, videophone: see website, email: kansliet@dhb.se, www.dhb.se.

Rare Diseases Sweden, Box 1386, SE-172 27 Sundbyberg, Sweden. Tel: +46 8 764 49 99, email: info@sallsyntadiagnoser.se, www.sallsyntadiagnoser.se. Rare Diseases Sweden is a national association promoting the interests of people with rare diseases.

Courses, exchanges of experience for personnel

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Research and development

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Information material

An information leaflet on Perisylvanian syndrome that summarises the information in this database text is available free of charge from the customer service department of the Swedish National Board of Health and Welfare (in Swedish only, article number 2012-4-10). Address: SE-120 88 Stockholm, Sweden. Tel: +46 75 247 38 80, fax: +46 35 19 75 29, email: publikationsservice@socialstyrelsen.se. Postage will be charged for bulk orders.

Newsletter from Ågrenska, nr 345, 2009. Newsletters are edited summaries of lectures delivered at family and adult visits to Ågrenska. Can be ordered from Ågrenska, Box 2058, 436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 3191 19 79, email: agrenska@agrenska.se. The newsletter is also available at: www.agrenska.se.

Literature

Bernal B, Rey G, Dunoyer C, Shanbhag H, Altman N. Agenesis of arcuate fasciculi in congenital bilateral perisylvian syndrome: a diffusion tensor imaging and tractography study. Arch Neurol 2010; 67: 501-505.

Brandão-Almeida IL, Hage SR, Oliveira EP, Guimarães CA, Teixeira KC, Abramides DV et al. Congenital bilateral perisylvian syndrome: familial occurrence, clinical and psycholinguistic aspects correlated with MRI. Neuropediatrics 2008; 39: 139-145.

Clark M, Neville BG. Familial and genetic associations in Worster-Drought syndrome and perisylvian disorders. Am J Med Genet A 2008; 146A: 35-42.

Gropman AL, Barkovich AJ, Vezina LG, Conry JA, Dubovsky EC, Packer RJ. Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients. Neuropediatrics 1997; 28: 198-203.

Guerreiro MM, Andermann E, Guerrini R, Dobyns WB, Kuzniecky R, Silver K et al. Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol 2000; 48: 39-48.

Guerrini R. Genetic malformations of the cerebral cortex and epilepsy. Epilepsia 2005; 46: 32-37.

Jansen AC, Leonard G, Bastos AC, Esposito-Festen JE, Tampieri D, Watkins K et al. Cognitive functioning in bilateral perisylvian polymicrogyria (BPP); clinical and radiological correlations. Epilepsy Behav 2005; 6: 393-404.

Molteni B, Sarti D, Airaghi G, Falcone C, Mantegazza G, Baranello G et al. Language abilities and gestural communication in a girl with bilateral perisylvian syndrome: a clinical and rehabilitative follow-up. Neurol Sci 2010; 31: 471-481.

Nevo Y, Segey Y, Gelman Y, Rieder-Grosswasser I, Harel S. Worster-Drought syndrome and congenital perisylvian syndromes-a continuum? Pediat Neurol 2001; 24: 153-155.

Saporta AS, Kumar A, Govindan RM, Sundaram SK, Chugani HT. Arcuate fasciculus and speech in congenital bilateral perisylvian syndrome. Pediatr Neurol 2011; 44: 270-274.

Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M et al. A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet 2002; 70: 1003-1008.

Database references

OMIM (Online Mendelian Inheritance in Man)
www.ncbi.nlm.nih.gov/omim 
Search: polymicrogyria, bilateral perisylvian, BPP

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Associate Professor Mårten Kyllerman, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.

The relevant organisations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Publication date: 2012-11-30
Version: 2.0
Publication date of the Swedish version: 2012-09-10

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: + 46 31 786 55 90, email: ovanligadiagnoser@gu.se.

 

About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.