), cognitive, autonomic, olfactory or motor phenomena.In a complex partial seizure a person may appear confused or dazed and cannot respond to questions or direction.Jerking activity may start in a specific muscle group and spread to surrounding muscle groups—known as a Jacksonian march. Unusual activities that are not consciously created may occur. These are known as automatisms and include simple activities like smacking of the lips or more complex activities such as attempts to pick something up. Generalized seizures
There are six main types of generalized seizures: tonic-clonic, tonic, clonic, myoclonic, absence, and atonic seizures. They all involve a loss of consciousness and typically happen without warning. Tonic-clonic seizures present with a contraction of the limbs followed by their extension, along with arching of the back for 10–30 seconds. A cry may be heard due to contraction of the chest muscles. The limbs then begin to shake in unison. After the shaking has stopped it may take 10–30 minutes for the person to return to normal. Tonic seizures produce constant contractions of the muscles. The person may turn blue if breathing is impaired. Clonic seizures involve shaking of the limbs in unison. Myoclonic seizures involve spasms of muscles in either a few areas or generalized through the body. Absence seizures can be subtle, with only a slight turn of the head or eye blinking. The person often does not fall over and may return to normal right after the seizure ends, though there may also be a period of post-ictal disorientation.
The T-box transcription factor TBX22 plays an essential role in normal craniofacial development. Nonsense, frameshift, splice-site and missense mutations in this region can result in patients with X-linked cleft palate (CPX) and ankyloglossia phenotypes. The CPX phenotype observed in individuals with Abruzzo-Erickson Syndrome most likely results from a loss of protein function as severely truncated proteins can result from the introduction of a premature stop codon can result from nonsense, splice-site, or frame shift sequence changes, while missense mutations in this region have less of a structural effect on the protein, but instead interferes with DNA binding and transcriptional activity. Diagnosis
Abruzzo–Erickson syndrome can be diagnosed on the basis of a complete physical examination (as patients with the syndrome often possess noticeable physical characteristics such as a cleft palate, large protruding ears, and facial asymmetry). As the syndrome is inherited, a complete medical history is also taken, and additional assessments may be made based on the results of laboratory tests, biopsies, and imaging studies. Genetic and molecular tests such as DNA sequencing can also be used for a complete diagnosis of Abruzzo–Erickson syndrome. Treatment
There is no cure for this condition. However, children with Abruzzo-Erikson syndrome can survive into adulthood and live productive lives as long as they are treated from an early age. Many life-threatening problems may arise in these children which need to be addressed. Treatment is generally focused on addressing the specific symptoms and not the syndrome itself. Since hearing problems are common with this syndrome, it is usually the first issue addressed.